Right isomerism ('asplenia')
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Non syndromic associated genes overview
GDF1 (5, 100%)
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External references for Right isomerism ('asplenia')
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Genes for phenotype 03.01.04:Right isomerism ('asplenia')
- Support: unconfirmed: a single case report
- References: PMID:14681828 (population study with screening of similar CHD patients and normal controls )
- Inheritance: X-linked heterotaxy: ZIC3 mutations are found in males with familial or sporadic heterotaxy and heterotaxy-related congenital heart defects. Some mutations were found in patients (both male and female) with sporadic non-heterotaxy congenital heart defects.
- Studies: (1)
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- Reference: PMID:14681828
- Incidence: 1/1 patients
- Comments: Ware et al., 2004 performed mutation analysis of the ZIC3 gene in 20 familial and 145 sporadic cases of heterotaxy. In addition, the gene was sequenced in 29 patients with atrial septal or ventricular septal defects without evidence of a laterality disorder. Two nonsense and one missense mutation were identified in 3 male probands out of 20 families with familial X-linked heterotaxy. In each case, the mother of the proband was heterozygous for the mutation. Four of the 7 affected family members presented with a double-outlet right ventricle, 4 with pulmonic stenosis/atresia, 4 with transposition of the great arteries, 3 with a common atrioventricular canal, 3 with TAPVR, two with a hypoplastic left heart syndrome, two with a VSD, 1 with a right aortic arch and two with an abnormal inferior caval vein. In addition, a ZIC3 missense mutation was found in 1 girl with non-familial heterotaxy (out of 145 unrelated individuals). She presented with a L-TGA, ASD, VSD and pulmonic stenosis. Finally, one missense mutation was found in one out of 29 non-heterotaxy patients. This patient presented with an ASD and a pulmonic stenosis.
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Regions for phenotype 03.01.04:Right isomerism ('asplenia')
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Translocations 03.01.04:Right isomerism ('asplenia')
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Patients reports for 03.01.04:Right isomerism ('asplenia')
Automated text-mining genes found for 03.01.04:Right isomerism ('asplenia')
This page contributors
- Jeroen Breckpot - CME Leuven (Belgium) (association, mutation, study)
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