ASD
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Chromosomal map of CHD genes and imbalances.Non syndromic associated genes overview
CITED2 (2, 4.8%)
CFC1/CRYPTIC (2, 4.8%)
TBX20 (3, 7.1%)
GATA6 (3, 7.1%)
GATA4 (11, 26.2%)
NKX2-5/NKX2.5 (21, 50%)
Atrial septal defect (ASD) is a form of congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The interatrial septum is the tissue that divides the right and left atria. Without this septum, or if there is a defect in this septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or vice versa. Irrespective of interatrial communication bi-directions, this results in the mixing of arterial and venous blood.
Classification of atrial septal defects:
- ASD type secundum: exists within the floor of the oval fossa
- Sinus venosus ASD: the interatrial communication in sinus venosus ASD is located outside the floor of the fossa ovalis, in the mouth of usually the superior, but sometimes the inferior, vena cava.
- Coronary sinus ASD: coronary sinus ASD results from a wide fenestration between the wall of the sinus coronarius and the left atrium. Coronary sinus ASD is often associated with persistent left superior vena cava.
- Primum ASD: exists between the leading edge of the atrial septum and the upper margin of the ventricular septum. A primum ASD is a partial atrioventricular septal defect (see Atrioventricular septal defect).
Notice: for all gene-phenotype associations involving ASD type secundum or not further specified ASDs, see atrial septal defect.
External references for ASD
Genes for phenotype 05.04.01:ASD
Non-syndromic
| GATA4 
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:15810002 (population study with screening of similar CHD patients and normal controls ) PMID:15689439 (population study with screening of similar CHD patients and normal controls ) PMID:12845333 (single case report ) PMID:15235040 (single case report ) PMID:18055909 (population study with screening of similar CHD patients and normal controls ) PMID:18076106 (single case report ) PMID:20347099 (single case report ) PMID:20854389 (single case report ) PMID:21373748 (population study with screening of similar CHD patients and normal controls )
- Inheritance: Nonsyndromic dominant atrial septal defect type 2 (OMIM:607941).
- Incidence: One mutation in GATA4 was identified in two out of 16 unrelated families with ASD. Additionally, two mutations in NKX2.5 were found in 2 out of 16 unrelated families with ASD and one mutation in NKX2.5 in one out of 13 sporadic patients with ASD (Sarkozy A et al., 2005). Two GATA4 mutations were identified in 2 out of 16 unrelated families with ASD. Additionally, three mutations in NKX2.5 were found in 3 of these families (Hirayama-Yamada K et al., 2005). Two mutations in GATA4 were identified in two large families with ASD type secundum. The mutation was found in all available affected family members but not in any control individuals (Garg V et al., 2003). A mutation in GATA4 was found in all available affected members of a family with ASD and pulmonary valvar stenosis (Okubo A et al., 2004). Four novel GATA4 mutations were found in 5 out of 628 subjects with various sporadic CHD. Three of these mutations were identified in 3 out of 122 subjects with ASD type secundum (Tomita-Mitchell A et al., 2007). One mutation in GATA4 was found in 1 out of 170 subjects with sporadic ASD type secundum. The ASD was associated with partially anomalous pulmonary venous connections (Posch MG et al., 2008).
- Comments:
- Studies: (10)
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- Reference: PMID:15235040
- Incidence: 1/1 patients
- Comments: A mutation in GATA4 was found in all available affected members of a family with ASD and pulmonary valvar stenosis (Okubo A et al., 2004).
- Reference: PMID:15689439
- Incidence: 2/29 patients
- Comments: One mutation in GATA4 was identified in two out of 16 unrelated families with ASD. Additionally, two mutations in NKX2.5 were found in 2 out of 16 unrelated families with ASD and one mutation in NKX2.5 in one out of 13 sporadic patients with ASD (Sarkozy A et al., 2005).
- Reference: PMID:15810002
- Incidence: 2/16 patients
- Comments: Two GATA4 mutations were identified in 2 out of 16 unrelated families with ASD. Additionally, three mutations in NKX2.5 were found in 3 of these families (Hirayama-Yamada K et al., 2005).
- Reference: PMID:18055909
- Incidence: 3/122 patients
- Comments: Four novel GATA4 mutations were found in 5 out of 628 subjects with various sporadic CHD. Three of these mutations were identified in 3 out of 122 subjects with ASD type secundum (Tomita-Mitchell A et al., 2007).
- Reference: PMID:18076106
- Incidence: 1/170 patients
- Comments: One mutation in GATA4 was found in 1 out of 170 subjects with sporadic ASD type secundum. The ASD was associated with partially anomalous pulmonary venous connections (Posch MG et al., 2008).
- Reference: PMID:12845333
- Incidence: 2/2 patients
- Comments: Two mutations in GATA4 were identified in two large families with ASD type secundum. The mutation was found in all available affected family members but not in any control individuals (Garg V et al., 2003).
- Reference: PMID:20854389
- Incidence: 2/2 patients
- Comments: D'Amato E et al., 2010 report on a novel GATA4 mutation in a boy with an atrial septal defect and pancreatic agenesis. The mutation was present in the proband’s father with history of cardiac murmur and in the proband’s sister, who had an atrial septal defect.
- Reference: PMID:20347099
- Incidence: 8/8 patients
- Comments: Chen Y et al., 2010 reported on a GATA4 mutation in a kindred spanning 3 generations with 8 affected members, who presented with atrial septal defect. The patriarch of the family was an unaffected carrier of the mutation. The variant was not found in any of the other unaffected family members.
- Reference: PMID:21373748
- Incidence: 2/120 patients
- Comments: Liu XY et al, 2011 screened for mutations in the GATA4 gene in 120 unrelated subjects with ASD. A novel heterozygous missense GATA4 mutation was identified in 2 unrelated families with ASD, which was not detected in the control population. Functional analysis showed that the GATA4 mutation was associated with a decreased transcriptional activity.
- Reference: PMID:21220346
- Incidence: 1/5 patients
- Comments: Lourenço D et al., 2011 identified a heterozygous missense mutation in GATA4 in the affected members of a family with congenital heart defects and abnormal external genitalia. One mutation carrier was born with ambiguous genitalia an ASD. The mutation was inherited from an unaffected mother. This mutation compromised the ability of the GATA4 protein to bind to and transactivate the anti-Müllerian hormone (AMH) promoter.
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| CFC1/CRYPTIC
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:17072672 (population study with screening of similar CHD patients and normal controls ) PMID:19853937 (population study with screening of similar CHD patients and normal controls )
- Inheritance: Isolated sporadic atrial septal defect type 2
- Incidence: CFC1 mutations may be a relatively infrequent cause of sporadic CHD in patients without heterotaxy syndrome.
- Comments:
- Studies: (2)
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- Reference: PMID:17072672
- Incidence: 0/48 patients
- Comments: In 167 unrelated patients with isolated CHD (ASD, VSD, and outflow tract abnormalities atrial including TGA, DORV, pulmonary atresia, PS, aortic isthmus stenosis, PDA, Ebstein’s anomaly, ToF, and other complex malformations) a novel A145T missense variant was found in 3 out of 48 patients with atrial septal defect type secundum. Although the alanine residue in the CFC domain is conserved in the mammalian CFC1 gene, the A145T variant was also found in 3 out of 168 normal controls: this suggests the A145T variant is a polymorphism. A R78W amino acid substitution in exon 3 was found in 1 out of 48 patients with ASD type II. The R78W variant has been identified by other groups, either in patients with heterotaxy syndrome and cardiac malformations or in patients with isolated double-outlet right ventricle. Since this mutation was also detected in control subjects of similar ethnicity (African American), the biological significance of this mutation remains unclear (Ozcelik C et al., 2006).
- Reference: PMID:19853937
- Incidence: 2/500 patients
- Comments: Wang B et al., 2009 performed sequence analysis of CFC1 in 500 non-syndromic CHD patients and identified three potentially significant non-synonymous variants in 4 individuals: two patients presented with ASD and two with VSD. The patient population was not described for the number of ASDs present. It is therefore impossible to extrapolate what percentage of ASD patients carry a mutation.
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| NKX2-5/NKX2.5
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:9651244 (population study with screening of similar CHD patients and normal controls ) PMID:15810002 (population study with screening of similar CHD patients and normal controls ) PMID:15689439 (population study with screening of similar CHD patients and normal controls ) PMID:14607454 (population study with screening of similar CHD patients and normal controls ) PMID:12798584 (population study with screening of similar CHD patients and normal controls ) PMID:10587520 (population study with screening of similar CHD patients and normal controls ) PMID:12414819 (population study with screening of similar CHD patients and normal controls ) PMID:12074273 (population study with screening of similar CHD patients and normal controls ) PMID:12112663 (population study with screening of similar CHD patients and normal controls ) PMID:16896344 (single case report ) PMID:10943630 (population study with screening of similar CHD patients and normal controls ) PMID:17891520 (single case report ) PMID:16845574 (single case report ) PMID:17184575 (single case report ) PMID:20932824 (population study with screening of similar CHD patients and normal controls ) PMID:20456451 (population study with screening of similar CHD patients and normal controls )
- Inheritance: Dominant. Atrial septal defect +/- AV block (OMIM:108900)
- Incidence: Sarkozy A et al., 2005 showed a prevalence of 12.5% of NKX2.5 mutations in familial cases of ASD-II, whereas in sporadic cases the estimated prevalence of germline mutations in NKX2.5 is about 1–4% (McElhinney DB et al., 2003, Elliott DA et al., 2006).
- Comments:
- Studies: (16)
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- Reference: PMID:14607454
- Incidence: 3/71 patients
- Comments: Mutation analysis of NKX2.5 in 608 prospectively recruited patients with conotruncal anomalies (n = 370), left-sided lesions (n = 160), secundum atrial septal defect (ASD) (n = 71), and Ebstein's malformation (n = 7). 3 mutation were found in 3 out of 71 patients with sporadic ASD (type secundum) (McElhinney DB et al., 2003).
- Reference: PMID:9651244
- Incidence: 3/4 patients
- Comments: 3 mutations were found in 4 unrelated families with ASD (type secundum) (Schott JJ et al., 1998).
- Reference: PMID:15810002
- Incidence: 3/3 patients
- Comments: Out of 16 families with ASD tested for NKX2.5 mutations, 3 were found to carry a mutation in NKX2.5 that segregates with the phenotype. Aditionally, two GATA4 mutations in two of these families were identified. (Hirayama-Yamada K et al., 2005).
- Reference: PMID:15689439
- Incidence: 3/29 patients
- Comments: Two mutations in NKX2.5 were found in 2 out of 16 unrelated families with ASD and one mutation in NKX2.5 in one out of 13 sporadic patients with ASD. Additionally, one mutation in GATA4 was identified in two out of these 16 unrelated families with ASD (Sarkozy A et al., 2005).
- Reference: PMID:12798584
- Incidence: 2/102 patients
- Comments: Two NKX2.5 mutations were found in 2 familial cases out of 102 probands with sporadic or familial (10%) ASD, associated with AV conduction block in 4% of the cases. One alteration did not seggregate in the family, suggesting this alteration to be a polymorphism (Elliott DA et al., 2003).
- Reference: PMID:12414819
- Incidence: 2/2 patients
- Comments: Two novel frameshift mutations were found in 2 unrelated families with congenital heart defects (notably ASD) and AV block (Watanabe Y et al., 2002).
- Reference: PMID:10587520
- Incidence: 5/26 patients
- Comments: 7 novel mutations were found in 26 probands with cardiac anomalies and first-degree AV block, idiopathic AV block or tetralogy of Fallot. ASD was present in 5 probands (Benson DW et al., 1999).
- Reference: PMID:12074273
- Incidence: 1/1 patients
- Comments: One mutation was found in a patient with familial ASD and first-degree AV block, no DNA available of other affected family members (Ikeda Y et al., 2002).
- Reference: PMID:12112663
- Incidence: 2/2 patients
- Comments: Two novel mutations were found in 2 unrelated families with inherited predisposition to cardiac abnormalities (ASD and AV block). Variable expressivity in the phenotype was observed in both families (Gutierrez-Roelens I et al., 2002).
- Reference: PMID:16896344
- Incidence: 1/7 patients
- Comments: 4 sporadic patients and 3 index cases of families with ASD and/or conduction defects were screened for NKX2.5 mutations. In 1 familial case (with ASD and progressive AV block) a novel NKX2.5 mutation was identified (Gutierrez-Roelens I et al., 2006).
- Reference: PMID:10943630
- Incidence: 1/1 patients
- Comments: Case report of family with ASD with a mutation of the NKX2-5 (Hosada T et al., 1999).
- Reference: PMID:17891520
- Incidence: 1/1 patients
- Comments: Novel NKX2.5 mutation found in a family with autosomal-dominant inherited atrioventricular (AV) conduction block associated with atrial septal defects (ASD) and other congenital cardiovascular diseases (CCVD), such as pulmonary artery stenosis (PS), patent foramen ovale (PFO) and ventricular septal defect (VSD) (Pabst S et al., 2008).
- Reference: PMID:16845574
- Incidence: 1/1 patients
- Comments: A NKX2.5 mutation was found in a family with autosomal dominant inherited ASD and progressive AV conduction defects (König K et al., 2006).
- Reference: PMID:17184575
- Incidence: 1/1 patients
- Comments: A novel missense heterozygous mutation in the NKX2-5 gene, was found in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block (Rifai L et al., 2007).
- Reference: PMID:20932824
- Incidence: 2/2 patients
- Comments: Ouyang P et al., 2010 identified a NKX2.5 mutation in a family with three affected brothers. The mutation was found to be inherited from the father, who died suddenly at the age of 29 years. Both affected brothers presented with an ASD, associated with either left ventricle non-compaction or AV block.
- Reference: PMID:20456451
- Incidence: 2/17 patients
- Comments: Stallmeyer B et al., 2010 screened for mutations in the NKX2.5 gene in 121 patients with a broad spectrum of congenital heart defects. Two novel mutations were detected in 2 out of 17 probands with atrial septal defects, and one previously described mutation was found in 1 out of 9 probands with hypoplastic left heart syndrome. Further functional studies are required to assess the impact of these novel variants on cardiac development.
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Syndromic
| TBX5
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:12818525 (population study with screening of similar CHD patients and normal controls ) PMID:12789647 (population study with screening of similar CHD patients and normal controls ) PMID:10842287 (population study with screening of similar CHD patients and normal controls ) PMID:12624158 (population study with screening of similar CHD patients and normal controls ) PMID:8988165 (population study with screening of similar CHD patients and normal controls ) PMID:8988164 (population study with screening of similar CHD patients and normal controls ) PMID:10077612 (population study with screening of similar CHD patients and normal controls ) PMID:16183809 (population study with screening of similar CHD patients and normal controls ) PMID:15710732 (population study with screening of similar CHD patients and normal controls ) PMID:16917909 (population study with screening of similar CHD patients and normal controls ) PMID:11183182 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Holt-Oram Syndrome (OMIM:142900): autosomal dominant: preaxial radial ray upper limb defects (thumb anomaly (absent or triphalangeal, nonopposable, finger-like digit, both a proximal and a distal epiphyseal ossification center)) and CHD (ASD type 2 > VSD > ASD type 1)
- Incidence: 1 family with HOS and ASD (PMID: 8988165); 1 mutation in TBX5 in 2 unrelated families wit HOS and ASD (PMID:12818525); 21 index patients revealed 9 TBX5 mutations, 8 of which have not been previously described (7 mutations are truncating (3 nonsense mutations, 4 small deletions) and 1 splice donor site mutation); VSD in 5/21 (1/5 isolated VSD); ASD in 11/21 (5/11 isolated ASD); isolated AVSD in 1/21 with Holt-Oram syndrome (PMID:16917909)
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- Reference: PMID:18706711
- Incidence: 1/1 patients
- Comments: Faria MD et al. report on a large family with atrial septum defect type secundum and postaxial polydactyly, both on hands and feet. A missense mutation in TBX5 was detected in 4 affected family members.
- Reference: PMID:12818525
- Incidence: 2/2 patients
- Comments: One mutation was found in 2 unrelated HOS families with multiple affected members.
- Reference: PMID:12789647
- Incidence: 13/49 patients
- Comments: 8 mutations were found in 8 out of 32 sporadic patients with HOS, an atrial septal defect was found in 5 out of 8 mutation-carrying subjects. Subsequently Brassington et al. detected 9 mutations in 9 out of 17 familial HOS probands, an atrial septal defect was present in 8 of the 9 mutation-carrying families.
- Reference: PMID:10842287
- Incidence: 3/7 patients
- Comments: One mutation was found in 1 out of 4 sporadic cases with HOS, and two mutations were found in 2 out of 3 familial cases.
- Reference: PMID:12624158
- Incidence: 1/1 patients
- Comments: One mutation in a large family with HOS was found. Fan et al. detected one mutation in a sporadic patient as well. However no details about the CHD type of this sporadic patient was provided.
- Reference: PMID:8988165
- Incidence: 2/2 patients
- Comments: Basson et al. detected 2 mutations in 2 large families with HOS. Clinical data of these families are provided in Basson et al, N Engl J Med, 1994 and Basson et al, Circulation, 1995.
- Reference: PMID:8988164
- Incidence: 6/6 patients
- Comments: 4 mutations were found in 6 unrelated probands with HOS (3 sporadic, 3 familial). Clinical details of the CHD type and segregation of CHDs in the families were not provided.
- Reference: PMID:16183809
- Incidence: 7/54 patients
- Comments: 15 mutations were found in 14 out of 54 unrelated probands with sporadic or familial HOS phenotype (13 sporadic and 1 familial case). One subject with sporadic HOS carried 2 de novo alterations. 7 out of 15 mutations were associated with atrial septal defect.
- Reference: PMID:15710732
- Incidence: 6/42 patients
- Comments: 9 mutations were found in 9 out of 42 subjects with sporadic or familial HOS phenotypes (5 sporadic and 4 familial cases). 6 out of 9 mutations were associated with atrial septal defect. The other mutations were associated with common atrium + AV canal (1/9), conductive heart failure (1/9) and aneurysm of atrial septum (1/9).
- Reference: PMID:16917909
- Incidence: 6/21 patients
- Comments: 9 mutations were found in 9 out of 21 unrelated probands with familial HOS phenotype. Atrial septal defect is present in 6 of these 9 probands. Subsequently, quantitative Real Time PCR was performed in 102 probands without TBX5 mutations to detect submicroscopic deletions in TBX5. One deletion of 7756 bp removes exon 6 and a considerable part of the neighboring intronic sequences, and the other of 3695 bp removes exon 9 with the stop codon and the 3'UTR completely as well as a part of the preceding intron 8.
- Reference: PMID:11183182
- Incidence: 1/17 patients
- Comments: 3 mutations have been found in 3 out of 8 sporadic subjects, and 5 mutations have been found in 5 out of 17 probands with familial HOS phenotype. Clinical details of the CHD types and the segregation of the CHDs in the families were not provided. Atrial septal defect was present in at least one sporadic case.
- Reference: PMID:10077612
- Incidence: 1/1 patients
- Comments: Basson CT et al studied the clinical features of Holt-Oram syndrome caused by 10 different TBX5 mutations in 12 unrelated probands, including the mutations found by Li QY et al, 1997 and Basson CT et al, 1997. Clinical details about the CHD types and the segregation of the CHDs were not provided. Therefore these mutations are not displayed below. The authors suggest that an amino acid alteration near the amino-terminal end of the T-box, which should affect interactions with the major groove of the target DNA sequence, produces very significant cardiac malformations (i.e. multiple septation defects, a single septation defect associated with other cardiovascular anomalies, or complex congenital heart disease). In contrast, amino acid changes at the carboxyl end of the T-box, which should affect interactions between TBX5 and the minor groove of the DNA target sequence, are likely to produce severe limb defects (phocomelia or marked ectromelia involving both the radius and humerus). However, based on screening of 55 subjects, Brassington et al., suggest that neither the type of mutation in TBX5 nor the location of a mutation in the T box is predictive of the expressivity of malformations in individuals with HOS (Brassington AM et al, 2003).
- Reference: PMID:15710732
- Incidence: 3/42 patients
- Comments: 9 mutations were found in 9 out of 42 subjects with sporadic or familial HOS phenotypes (5 sporadic and 4 familial cases). Ventricular septal defects are present in 3 subjects.
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| RAI1
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References:
- Syndromes: Smith Magenis Syndrome
- Incidence:
- Comments:
- Studies: (0)
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| SOS1
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:18651097 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Noonan Syndrome 4 (NS4) (OMIM:610733 or OMIM:163950): autosomal dominant condition characterized by short stature, distinctive facial appearance (triangular face with ptosis, blue-green irides and low posterior hairline or webbed neck), congenital heart defects (pulmonic stenosis, septal defects, and hypertrophic cardiomyopathy) and Woolly-like consistency of hair.
- Incidence:
- Comments:
- Studies: (3)
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- Reference: PMID:17143285
- Incidence: 2/15 patients
- Comments: Roberts et al. performed mutation analysis of the SOS1 gene in 57 patients with Noonan syndrome, which did not have mutations in any mutations in PTPN11, KRAS, BRAF, CSK, PTPN6, PAG1, MRAS or SOS2. Nine SOS1 mutations were detected in 15 individuals (12 probands). Eleven patients presented with pulmonary valvar stenosis, 2 with atrial septal defect, 1 with ventricular septal defect and 3 patients developed hypertrophic cardiomyopathy.
- Reference: PMID:17143282
- Incidence: 4/16 patients
- Comments: Tartaglia et al. performed mutation analysis in the SOS1 gene in 129 patients with Noonan syndrome, which did not have mutations in PTPN11 and KRAS. SOS1 mutations were detected in 22 Noonan patients. Cardiac anomalies were present in 13 out of 16 well-described mutation carriers: pulmonary valvar stenosis in 10 patients, septal defects in 4 patients and 2 patients developed hypertrophic cardiomyopathy.
- Reference: PMID:18651097
- Incidence: 3/7 patients
- Comments: Narumi et al. performed mutation analysis of the SOS1 gene in 24 patients with Noonan syndrome and 30 patients with CFC. None of these patients have mutations in the genes PTPN11, KRAS, HRAS, BRAF, MEK1 and MEK2. They detected 2 SOS1 mutations in 4 Noonan patients, including 3 related patients, and 3 mutations in 3 CFC patients. Congenital heart defects were detected in all the mutation carriers. Pulmonary valvar stenosis in 6 patients (NS=4, CFC=2), atrial septal defect in 3 NS patients, aortic valve stenosis in 1 CFC patient, and pulmonic artery stenosis in 1 CFC patient.
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| MAP2K2/MEK2
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:17704260 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Cardiofaciocutaneous (CFC) syndrome (OMIM:115150) is an autosomal dominant disorder characterized by distinctive facial appearance (high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, posteriorly angulated ears with prominent helices), heart defects (pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy), and mental retardation. Ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition
- Incidence:
- Comments:
- Studies: (1)
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- Reference: PMID:17704260
- Incidence: 3/15 patients
- Comments: Nava et al. performed mutation analysis of the genes KRAS, BRAF, MEK1, MEK2, PTPN11 and HRAS in 40 patients with CFC, 20 with Costello and 70 with NS. Four MEK1 and 4 MEK2 mutations were identified in 15 individuals (CFC=8, CS=4 and NS=3). Heart defects were present in 6 of them: pulmonary valvar stenosis in 3 patients, ASD in 3 patients and 3 individuals developed hypertrophic cardiomyopathy. No further details about the gene-phenotype associations were available.
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| KRAS
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:16474405 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Mutations in KRAS can cause Noonan syndrome or Cardio-facio-cutaneous syndrome:
- Noonan Syndrome (NS3) (OMIM:609942 or OMIM:163950): characterized by short stature, distinctive facial appearance (triangular face with ptosis, blue-green irides and low posterior hairline or webbed neck), congenital heart defects (pulmonic stenosis, septal defects, and hypertrophic cardiomyopathy) and Woolly-like consistency of hair.
- Cardiofaciocutaneous (CFC) syndrome (OMIM:115150): distinctive facial appearance (high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, posteriorly angulated ears with prominent helices), heart defects (pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy), and mental retardation. Ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition
- Incidence: Mutations in KRAS in 5% of the Noonan population.
- Comments:
- Studies: (4)
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- Reference: PMID:17056636
- Incidence: 2/12 patients
- Comments: Zenker et al. performed mutation analysis for the KRAS gene in 236 PTPN11 negative patients with Noonan syndrome, 21 BRAF negative individuals with CFC and three HRAS negative patients with Costello syndrome. Eleven mutations in 12 patients were detected (NS=8; Costello=2; CFC=2). Cardiac anomalies were present in 8 patients: 6 patients presented with pulmonary valvar stenosis, 2 with ASD and 2 developed a hypertophic cardiomyopathy.
- Reference: PMID:16474405
- Incidence: 1/6 patients
- Comments: Schubbert et al. performed mutation analysis for KRAS in 174 individuals with Noonan syndrome whitout PTPN11 mutations, and 12 individuals with CFC. Four KRAS mutations were detected in 6 unrelated individuals (NS=5; CFC=1). Cardiac anomalies were present in 5 individuals: pulmonary valvar stenosis in 2 patients, ASD and VSD in 1 patient, clef mitral valve in 1 patient and 2 patients developed a hypertrophic cardiomyopathy with mitral valve prolapse.
- Reference: PMID:17704260
- Incidence: 2/7 patients
- Comments: Nava et al. performed mutation analysis of the genes KRAS, BRAF, MEK1, MEK2, PTPN11 and HRAS in 40 patients with CFC, 20 with Costello (without HRAS mutations) and 70 with Noonan syndrome (without SOS1 or PTPN11 mutations). Five KRAS mutations were found in 7 individuals (CFC=1; Costello=2 and NS=4). Heart defects were present in all of these patients: three presented with pulmonary valvar stenosis, two with atrial septal defect and three developed hypertrophic cardiomyopathy.
- Reference: PMID:16474405
- Incidence: 1/1 patients
- Comments: Niihori et al. performed mutation analysis of the BRAF and KRAS gene in 43 individuals with CFC syndrome (OMIM:115150). Two heterozygous KRAS mutations in 3 individuals and eight BRAF mutations in 16 individuals were found. CHD in individuals carrying KRAS mutations: 1 presented with pulmonic stenosis, 1 with atrial septal defects and all 3 individuals developed a cardiomyopathy
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| G6PC3
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:20799326 (single case report ) PMID:20717171 (single case report )
- Syndromes: Autosomal recessive severe congenital neutropenia (SCN4) or Dursun syndrome (OMIM:613034): triad of familial PPH, leucopenia, and atrial septal defect (ASD)
- Incidence: rare autosomal recessive disorder
- Comments:
- Studies: (2)
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- Reference: PMID:20799326
- Incidence: 2/2 patients
- Comments: Banka S et al., 2010 report on a homozygous mutation in the G6PC3 gene in a family with 2 affected sibs, presenting pulmonary hypertension, atrial septal defect, neutropenia, lymphopenia, monocytosis, anemia, dysplastic bone marrow, thymus hypoplasia, proximally placed thumbs, broad nasal bridge, pectus carinatum, and high arched palate.
- Reference: PMID:20717171
- Incidence: 2/2 patients
- Comments: Banka S et al., 2011 report on a homozygous G6PC3 mutation (p.253R>H) in four individuals with severe congenital neutropenia type 4 who belong to a single large consanguineous kindred. Atrial septal defects and patent ductus arteriosus were present in two of these patients.
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| GJA1
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- Support: unconfirmed: a single case report
- References: PMID:12457340 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Oculodentodigital dysplasia (ODDD) OMIM:164200: this autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances.
- Incidence: 2 out of 17 families with ODDD, described by Paznekas WA et al., 2003, had cardiac abnormalities.
- Comments:
- Studies: (1)
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- Reference: PMID:12457340
- Incidence: 1/17 patients
- Comments: 2 out of 17 families with ODDD, described by Paznekas WA et al., 2003, had cardiac abnormalities. One individual with sporadic ODDD had an atrioseptal defect. In addition, a familial case had recurrent ventricular tachycardia and an atrioventricular block. The latter proband’s paternal grandmother and father both died from cardiac arrhythmia and sudden cardiac death, respectively (Paznekas WA et al., 2003).
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| BRAF
|
- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:16474404 (population study with screening of similar CHD patients and normal controls ) PMID:17704260 (population study with screening of similar CHD patients and normal controls ) PMID:19206169 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Mutations in BRAF are detected in Noonan syndrome, Cardio-facio-cutaneous syndrome and LEOPARD syndrome:
- Noonan Syndrome (NS3) (OMIM:609942 or OMIM:163950): autosomal dominant condition characterized by short stature, distinctive facial appearance (triangular face with ptosis, blue-green irides and low posterior hairline or webbed neck), congenital heart defects (pulmonic stenosis, septal defects, and hypertrophic cardiomyopathy) and Woolly-like consistency of hair.
- Cardiofaciocutaneous (CFC) syndrome (OMIM:115150): autosomal dominant condition characterized by distinctive facial appearance (high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, posteriorly angulated ears with prominent helices), heart defects (pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy), and mental retardation. Ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition
- LEOPARD syndrome (OMIM:151100: autosomal dominant condition characterized by Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth and sensorineural Deafness.
- Incidence:
- Comments:
- Studies: (3)
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- Reference: PMID:19206169
- Incidence: 4/20 patients
- Comments: Sarkozy et al. performed mutation analysis for the BRAF gene in 390 patient with a diagnosis of Noonan syndrome (N=270), LEOPARD (N=6) or CFC (N=33), which did not have any mutations in PTPN11, SOS1, KRAS, RAF1, MEK1, or MEK2. They identified respectively 4, 1 and 15 BRAF mutations in 5 patients with Noonan syndrome, 1 with LEOPARD and 17 with CFC. Cardiac anomalies were present in 20 patients with a BRAF mutation: pulmonary valvar stenosis in 9 patients, supravalvular pulmonary stenosis in 3, atrial septal defect in 4, and mitral valve dysplasia in 5 patients. Nine patients developed hypertrophic cardiomyopathy.
- Reference: PMID:17704260
- Incidence: 5/22 patients
- Comments: Nava et al. performed mutation analysis of the genes KRAS, BRAF, MEK1, MEK2, PTPN11 and HRAS in 40 patients with CFC, 20 with Costello (without HRAS mutation) and 70 with Noonan syndrome (without SOS1 or PTPN11 mutations). Twelve BRAF mutations were found in 22 patients (CFC =14 and Costello=8). Congenital heart defects were present in 19 of them: pulmonary valvar stenosis in 11 patients, atrial septal defect in 5 and hypertrophic cardiomyopathy in 9.
- Reference: PMID:16474404
- Incidence: 2/2 patients
- Comments: Niihori et al. performed mutation analysis of the BRAF and KRAS gene in 43 individuals with CFC syndrome (OMIM:115150). Two heterozygous KRAS mutations in 3 individuals and eight BRAF mutations in 16 individuals were found. CHD were present in 13 out of 16 BRAF mutation carriers: 8 presented with pulmonic stenosis, 2 with atrial septal defect, 4 with cardiomyopathy and 2 with arrhythmia.
- Add another study.
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| NSD1
|
- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:15742365 (population study with screening of similar CHD patients and normal controls ) PMID:16329110 (single case report )
- Syndromes: SOTOS syndrome (OMIM:117550): prenatal and postnatal overgrowth, advanced bone age, prominent pointed chin, frontal bossing, hypertelorism or telecanthus, downslanting palpebral fissures, a high arched palate, flat nasal bridge, epicanthic folds, and large hands and feet. Mild to moderate developmental delay, often with behaviour problems, and an emotional immaturity that persists into adulthood; neonatal jaundice and feeding difficulties, clumsiness and incoordination; formation of solid tumours (Wilms tumour, hepatic tumours); CHD in 8-50%.
- Incidence: 59 patients with congenital overgrowth; 24/59 SOTOS; NSD1 mutations in 16/24 SOTOS (7/16 with CHD; 4/7 ASD); (PMID:15742365); case report of 1 patient with congenital overgrowth (features of Nevo syndrome with ASD) (PMID:16329110)
- Comments:
- Studies: (1)
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- Reference: PMID:15742365
- Incidence: 7/7 patients
- Comments: 59 patients with overgrowth were analysed for NSD1 mutations, 16 had an NSD1 mutation. Out of these 16, 7 had a CHD (7x ASD, 1x VSD, 2x PDA, 1x CoA, 1x right branch block)
- Add another study.
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| MLL2
|
- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:20711175 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Kabuki syndrome (OMIM:147920) is characterized by mental retardation, postnatal growth delay, facial dysmorphism (long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, fetal pads, and radiographic abnormalities of the vertebrae, hands, and hip joints.
- Incidence: Kabuki syndrome has an estimated incidence of 1 in 32,000 (Niikawa N et al., 1988).
- Comments:
- Studies: (1)
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- Reference: PMID:20711175
- Incidence: 4/9 patients
- Comments: Ng S et al., 2010 sequenced the exome of ten unrelated subjects with a clinical diagnosis of Kabuki syndrome. Seven probands had newly identified nonsense or frameshift mutations in the MLL2 gene. Follow-up Sanger sequencing detected MLL2 mutations in two of the three remaining individuals with Kabuki syndrome and in 26 of 43 additional cases. Congenital heart defects were present in 5 out of 9 patients with MLL2 mutations: atrial septal defects in four patients, ventricular septal defects in 4, aortic coarctation in 4, bicuspid aortic valve in 3 and dyrhythmia in 2 patients.
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| MAP2K1/MEK1
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:17704260 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Cardiofaciocutaneous (CFC) syndrome (OMIM:115150) is an autosomal dominant disorder characterized by distinctive facial appearance (high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, posteriorly angulated ears with prominent helices), heart defects (pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy), and mental retardation. Ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition
- Incidence:
- Comments:
- Studies: (1)
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- Reference: PMID:17704260
- Incidence: 3/15 patients
- Comments: Nava et al. performed mutation analysis of the genes KRAS, BRAF, MEK1, MEK2, PTPN11 and HRAS in 40 patients with CFC, 20 with Costello and 70 with NS. Four MEK1 and 4 MEK2 mutations were identified in 15 individuals (CFC=8, CS=4 and NS=3). Heart defects were present in 6 of them: pulmonary valvar stenosis in 3 patients, ASD in 3 patients and 3 individuals developed hypertrophic cardiomyopathy. No further details about the gene-phenotype associations were available.
- Add another study.
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| CHD7
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:16615981 (population study with screening of similar CHD patients and normal controls ) PMID:16155193 (population study with screening of similar CHD patients and normal controls ) PMID:18445044 (population study with screening of similar CHD patients and normal controls )
- Syndromes: CHARGE syndrome (OMIM:214800): Coloboma, Heart defect (ASD, VSD, and parachute mitral valve, ToF), Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness.
- Incidence: Mutations in CHD7 were found in 17 out of 24 patients with CHARGE phenotype, 13 out of 17 patietns had a congenital heart defect: 3 patients with patent ductus arteriosus and atrial septum defect (Aramaki et al., 2006). 69 mutations in CHD7 were found in 47 out of 107 index patients with CHARGE phenotype, 31 out of 47 patients had a congenital heart defect, of which 6 patients with PDA combined with ASD, and/or VSD and 4 patients with a solitary septal defect (not further specified) (Jongmans et al., 2006). 18 mutations (15 point mutations, 2 exon deletions and 1 whole gene deletion) were identified in 18 out of 28 Swedish patients with CHARGE phenotype by Wincent J et al., 2008. An atrial septal defect in combination with an Epstein malformation, was present in one member of a monozygotic twin carrying a de novo nonsense mutation in CHD7.
- Comments:
- Studies: (2)
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- Reference: PMID:16615981
- Incidence: 3/17 patients
- Comments: Mutations in CHD7 were found in 17 out of 24 patients with CHARGE phenotype, 13 out of 17 patients had a congenital heart defect. Defects of the aortic arch were relatively common: 3 patients had aortic valve stenosis, 2 had coarctation, 1 had an interrupted aortic arch, and 1 had a transposition of the great arteries. Eight of the 13 patients who had intracardiac defects also had patent ductus arteriosus, of which 3 patients with patent ductus arteriosus and atrial septum defect (Aramaki et al., 2006).
- Reference: PMID:18445044
- Incidence: 1/1 patients
- Comments: 18 mutations (15 point mutations, 2 exon deletions and 1 whole gene deletion) were identified in 18 out of 28 Swedish patients with CHARGE phenotype by Wincent J et al., 2008. An atrial septal defect in combination with an Epstein malformation, was present in one member of a monozygotic twin carrying a de novo nonsense mutation in CHD7. The other sibling presented with a complete atrioventricular septal defect.
- Add another study.
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| HRAS
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- Support: unconfirmed: a single case report
- References: PMID:16170316 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Costello Syndrome (OMIM:218040): coarse face (epicanthal folds, large, depressed nasal bridge, and large earlobes), short stature, redundant skin of the neck, palms, soles, and fingers; curly hair, papillomata around the mouth and nares, congenital heart defects in 30% (most commonly pulmonic stenosis), cardiac hypertrophy in 34%, rythm disturbances in 33% (most commonly atrial tachycardia) and mental retardation
- Incidence:
- Comments:
- Studies: (1)
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- Reference: PMID:16170316
- Incidence: 1/7 patients
- Comments: Aoki et al. performed mutation analysis of the genes KRAS, HRAS, NRAS and ERAS in 13 individuals with Costello syndrome and 28 individuals with PTPN11-negative Noonan syndrome. They detected 4 heterozygous mutations in HRAS in 12 individuals with Costello syndrome. Cardiac anomalies were present in 6 of 7 well-described individuals: one presented with ASD, 5 developed a hypertrophic cardiomyopathy. No mutations in KRAS, NRAS, HRAS or ERAS were detected in the Noonan cohort or in the remaining individual with Costello syndrome.
- Add another study.
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| PTPN11
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:17515436 (population study with screening of similar CHD patients and normal controls ) PMID:15723289 (population study with screening of similar CHD patients and normal controls ) PMID:12960218 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Noonan Syndrome 1 (NS1) (OMIM:163950): autosomal dominant condition characterized by short stature, distinctive facial appearance (triangular face with ptosis, blue-green irides and low posterior hairline or webbed neck), congenital heart defects (pulmonic stenosis, septal defects, and hypertrophic cardiomyopathy) and Woolly-like consistency of hair.
- Incidence: Sznayer et al. reports an incidence of 26% (26 out of 104) of atrial septum defect in Noonan patients that carry a PTPN11 mutation.
- Comments:
- Studies: (3)
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- Reference: PMID:15723289
- Incidence: 17/56 patients
- Comments: Jongmans et al. performed PTPN11 mutation analysis in 170 Noonan patients and detected 24 mutations in 76 (45%) of them. Cardiac anomalies were present in 42 out of 56 well-characterized PTNP11 positive carriers: pulmonary valvar stenosis was present in 38 of them, atrials septal defect in 17 patients, 7 patients presented with a not furhter specified CHD and 4 individuals developed a hypertrophic cardiomyopathy.
- Reference: PMID:17515436
- Incidence: 26/104 patients
- Comments: Sznayer et al. describes the cardiac phenotype of 104 patients with Noonan syndrome, which carry a mutation in the PTPN11 gene. Heart defects were present in 85%. The most prevalent CHDs were pulmonary valve stenosis (N=62 (60%)), atrial septal defect ostium secundum type (N=26(25%)), and stenosis of the peripheral pulmonary arteries (N=16 (15%)). Other CHDs: VSD (N=7); AVSD (N=2); hypertrophic cardiomyopathy (N=12); aortic stenosis (N=2) and CoAo (N=1).
- Reference: PMID:12960218
- Incidence: 2/34 patients
- Comments: Sarkozy et al. performed mutation analysis of the PTPN11 gene in 71 patients with Noonan syndrome and 13 with LEOPARD syndrome. Fourteen different PTPN11 mutations were detected in 23 patients with Noonan syndrome and 11 with LEOPARD syndrome. Cardiac anomalies were present in 27 PTPN11 mutation carriers (NS=20; LS=7): 14 patients presented with pulmonary valvular stenosis (NS=13; LS=1), 2 with ASD, 3 with AVSD and 8 patients developed a hypertrophic cardiomyopathy (NS=3; LS=5).
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| RBM10
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:20451169 (population study with screening of similar CHD patients and normal controls )
- Syndromes: TARP syndrome (OMIM:311900): an X-linked disorder characterized by Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava, and associated with 100% pre- or postnatal lethality in affected males.
- Incidence: rare, X-linked disorder
- Comments:
- Studies: (1)
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- Reference: PMID:20451169
- Incidence: 1/1 patients
- Comments: Johnston JJ et al., 2010 report on RBM10 mutations in two families with TARP syndrome, an X-linked disorder characterized by Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava, associated with 100% pre- or postnatal lethality in affected males. By means of linkage analysis and massive parallell sequencing, mutations in the RBM10 gene were detected in all affected males, as well as in all obligate female carriers, in both families: a frame-shift mutation (c.1893_1894insA) in family 1, and a nonsense mutation (c.1235G>A) in family 2. Congenital heart defects were present in 2 out of 3 patients of family 2 (1 ASD, 1 unspecified CHD). Clinical features of family 1 are described previously by Gorlin RJ et al., 1970.
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| BCOR
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- Support: confirmed: 2 or more independent reports > 1% incidence
- References: PMID:15004558 (population study with screening of similar CHD patients and normal controls ) PMID:19367324 (population study with screening of similar CHD patients and normal controls )
- Syndromes: Oculofaciocardiodental Syndrome (OFCD) (OMIM:300166) is a distinct form of syndromic microphthalmia with congenital cataracts, narrow face, broad nasal tip with separated cartilage, cleft palate, and cardiac and dental anomalies (canine radiculomegaly, root dilacerations, oligodontia and retained deciduous teeth). OFCD is presumed to be inherited in an X-linked dominant pattern with male lethality.
- Incidence:
- Comments:
- Studies: (2)
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- Reference: PMID:15004558
- Incidence: 5/7 patients
- Comments: Ng D et al., 2004 sequenced BCOR in ten females from seven families with OFCD. Different mutations were found in all families (nonsense, frameshift, splicing and large deletion). In two sporadic cases for which DNA from parents was available, the mutations were de novo. In families OFCD5 and OFCD6, females in three and two generations, respectively, were affected and the mutations co-segregated. Atrial septal defect was present in 5 out of 7 families with OFCD.
- Reference: PMID:19367324
- Incidence: 14/35 patients
- Comments: Hilton E et al., 2009 describes the phenotype of 35 females carrying a mutation in the BCOR gene. Congenital heart defects are present in 20 patients, with 85% (17/20) presenting a septal defect: atrial septal defects were present in 14 patients and ventricular septal defects in 6. The cardiac phenotype was not assessed in another 8 affected mutations carriers.
- Add another study.
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Add another gene.
Regions for phenotype 05.04.01:ASD
| Region |
Patients |
References |
OMIM |
Comments
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| chr5:D5S2088-D5S807
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/
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PMID:9610535 (population study with screening of similar CHD patients and normal controls )
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OMIM:108800
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locus between D5S2088 and D5S807
Some family member were also affected by an Atrial Septal Aneurism or a Left Superior Vena Cava
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| chr9:D9S167-D9S1682
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2/12
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PMID:21386876 (single case report )
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OMIM:
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Van de Meerakker JB et al., 2010 performed genome-wide linkage analysis in a large four-generation family with autosomal dominant CHD (including ASD type I and II, tetralogy of Fallot and persistent left superior vena cava) and low atrial rhythm. Genome-wide linkage analysis on 12 affected, 5 unaffected individuals and 1 obligate carrier demonstrated significant linkage only to chromosome 9q21–33 with a multipoint maximum LOD score of 4.1 at marker D9S1690. Sequence analysis of 9 out of 402 candidate genes in this 39 Mb region (INVS, TMOD1, TGFBR1, KLF4, IPPK, BARX1, PTCH1, MEGF9 and S1PR3) revealed no mutations. All 12 affected family members presented with a low atrial rhythm. In addition, four affected subjects presented with a persistent left superior caval vein, two with ASD type II, two with ASD type I (incomplete AVSD), and one with Tetralogy of Fallot.
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| chr10:2785366-2888143
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10/18
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PMID:21169613 (single case report )
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OMIM:
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Tremblay N et al., 2011 maps a rare familial form of ASD/VSD/septal aneurysms to chromosome 10p15. Eighteen family members in three generations could be studied, out of whom 10 are affected (2 ASD, 3 septal aneurysm, 4 VSD, and 1 tetralogy of Fallot). Parametric multipoint LOD scores reach significance on chromosome 10p15.3-10p15.2 (max. 3.29).
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Translocations 05.04.01:ASD
| Region |
References |
OMIM |
Comments
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| chr9:139755250-139755551
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PMID:15805155 (single case report )
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OMIM:610253
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Kleefstra T et al., 2005 report on a balanced de novo translocation (X;9)(p11.23;q34.3) in a girl with developmental delay, behavioral problems (autism and automutilation), seizures, an ASD type II, brachycephaly and facial dysmorphic features suggestive of 9q deletion syndrome (synophrys, upslanting of the palpebral fissures, hypertelorism, mid-face hypoplasia, broad nasal bridge, anteverted nares, protrusion of the tongue, thickened lower lip, pointed chin, and small ears).
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Patients reports for 05.04.01:ASD
- case 4 Clinical data Phenotype
- case 6 Clinical data Phenotype
- case 7 Clinical data Phenotype
Automated text-mining genes found for 05.04.01:ASD
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This page contributors
- Jeroen Breckpot - CME Leuven (Belgium) (association, mutation, study, translocation)
- yaojuan jia - institute for human genetics (Belgium) (association)
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