ELN

Non syndromic associated CHDs overview

Aortic valvar stenosis - congenital (3, 3.2%)

Pulmonary valvar stenosis - congenital (5, 5.3%)

Supravalvar pulmonary trunk stenosis (5, 5.3%)

Peripheral pulmonary arterial stenoses - at/beyond hilar bifurcation (34, 36.2%)

Supravalvar aortic stenosis (47, 50%)

[edit] Synopsys

ELN encodes the connective tissue protein elastin (OMIM:130160). Point mutations, chromosomal deletions, and translocations involving ELN have been described in patients with nonsyndromic supravalvular aortic stenosis (SVAS) (OMIM:185500). SVAS is one of the features associated with the contiguous gene microdeletion disorder, Williams-Beuren Syndrome (OMIM:194050), and is caused by deletion of the ELN locus on one chromosome 7 homolog. In addition, ELN is involved in cutis laxa (OMIM:123700), an autosomal dominant connective tissue disorder.

External references for ELN

• ensembl: ENSG00000049540
• OMIM: 130160
• Search miRBase for ELN
• Expression patterns from 4DXPress: ELN
• MGI: MGI:95317
• ZFIN: ZDB-GENE-061212-1 ZDB-GENE-061212-2
• Wikipedia: ELN
• Search Wikiproteins: ELN
• Search Genetic Association Database: ELN
• Search GeneTests: ELN
• CHeartED:

Known phenotypes for ELN

Non-syndromic

Aortic valvar stenosis - congenital

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:21080980 (population study with screening of similar CHD patients and normal controls ) Inheritence: Isolated sporadic or autosomal dominant familial SVAS with central or peripheral pulmonary artery stenosis (OMIM:185500). Incidence: Mutations in ELN were identified in 35 out of 100 patients with SVAS and normal karyotypes (Metcalfe K et al., 2000). Comments: Studies: (2) [ show ] [ hide ] Reference: PMID:21080980 Incidence: 2/8 patients Comments: Jakob A et al., 2011 report on a heterozygous ELN mutation in a large family with 8 affected members: 2 patients presented with isolated SVAS, 2 with aortic valve stenosis, 1 with peripheral pulmonary stenosis and 1 with pulmonary valve stenosis. The two remaining mutation carriers died at young age due to heart failure: one patient presented with AS/PS and coronary stenosis, and the other patient with SVAS, PPS, CoAo and coronary abnormalities. Reference: PMID:11175284 Incidence: 1/35 patients Comments: Metcalfe K et al., 2000 reported on ELN mutations in 35 out of 100 patients with supravalvar aortic stenosis (SVAS) and/or peripheral pulmonary stenosis (PPS). Personal or familial history of aortic valve stenosis was reported in 1 ELN mutation carrier. Add another study.

Peripheral pulmonary arterial stenoses - at/beyond hilar bifurcation

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:16944981 (single case report ) PMID:8475063 (basic research ) PMID:11175284 (population study with screening of similar CHD patients and normal controls ) PMID:10942104 (population study with screening of similar CHD patients and normal controls ) Inheritence: Isolated sporadic or autosomal dominant familial SVAS with central or peripheral pulmonary artery stenosis Incidence: Mutations in ELN were detected in 35 out of 100 patients with SVAS and normal karyotypes (Metcalfe K et al., 2000). Comments: Studies: (4) [ show ] [ hide ] Reference: PMID:21080980 Incidence: 2/8 patients Comments: Jakob A et al., 2011 report on a heterozygous ELN mutation in a large family with 8 affected members: 2 patients presented with isolated SVAS, 2 with aortic valve stenosis, 1 with peripheral pulmonary stenosis and 1 with pulmonary valve stenosis. The two remaining mutation carriers died at young age due to heart failure: one patient presented with AS/PS and coronary stenosis, and the other patient with SVAS, PPS, CoAo and coronary abnormalities. Reference: PMID:11175284 Incidence: 27/35 patients Comments: Metcalfe K et al., 2000 reported on ELN mutations in 35 out of 100 patients with supravalvar aortic stenosis (SVAS) and/or peripheral pulmonary stenosis (PPS). Personal or familial history of PPS was reported in 27 ELN mutation carriers. Reference: PMID:10942104 Incidence: 4/5 patients Comments: Urban Z et al., 2000 reported on heterozygous ELN mutations in 4 large families with SVAS and peripheral pulmonary stenosis. In addition, a patient with SVAS and PPS was found compound heterozygous for ELN mutations. The presence of unaffected carriers in these families suggests that ELN mutations are associated with reduced penetrance. Reference: PMID:16944981 Incidence: 1/1 patients Comments: Arrington CB et al., 2006 reported on an ELN mutation a large family with SVAS and supravalvar pulmonary stenosis (SVPS). Ten mutation carriers were diagnosed with SVAS, which was associated with SVPS in 7 individuals. Add another study.

Pulmonary valvar stenosis - congenital

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:21080980 (population study with screening of similar CHD patients and normal controls ) Inheritence: Isolated sporadic or autosomal dominant familial SVAS with central or peripheral pulmonary artery stenosis (OMIM:185500). Incidence: Mutations in ELN were identified in 35 out of 100 patients with SVAS and normal karyotypes (Metcalfe K et al., 2000). Comments: Studies: (2) [ show ] [ hide ] Reference: PMID:21080980 Incidence: 1/8 patients Comments: Jakob A et al., 2011 report on a heterozygous ELN mutation in a large family with 8 affected members: 2 patients presented with isolated SVAS, 2 with aortic valve stenosis, 1 with peripheral pulmonary stenosis and 1 with pulmonary valve stenosis. The two remaining mutation carriers died at young age due to heart failure: one patient presented with AS/PS and coronary stenosis, and the other patient with SVAS, PPS, CoAo and coronary abnormalities. Reference: PMID:11175284 Incidence: 4/35 patients Comments: Metcalfe K et al., 2000 reported on ELN mutations in 35 out of 100 patients with supravalvar aortic stenosis (SVAS) and/or peripheral pulmonary stenosis (PPS). Personal or familial history of pulmonary valvar stenosis was reported in 4 ELN mutation carriers. Add another study.

Supravalvar aortic stenosis

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:9215670 (population study with screening of similar CHD patients and normal controls ) PMID:16944981 (single case report ) PMID:11175284 (population study with screening of similar CHD patients and normal controls ) PMID:10942104 (population study with screening of similar CHD patients and normal controls ) Inheritence: Isolated sporadic or autosomal dominant familial SVAS Incidence: Mutations in ELN were identified in 35 out of 100 patients with SVAS and normal karyotypes (Metcalfe K et al., 2000). Comments: Studies: (5) [ show ] [ hide ] Reference: PMID:21080980 Incidence: 3/8 patients Comments: Jakob A et al., 2011 report on a heterozygous ELN mutation in a large family with 8 affected members: 2 patients presented with isolated SVAS, 2 with aortic valve stenosis, 1 with peripheral pulmonary stenosis and 1 with pulmonary valve stenosis. The two remaining mutation carriers died at young age due to heart failure: one patient presented with AS/PS and coronary stenosis, and the other patient with SVAS, PPS, CoAo and coronary abnormalities. Reference: PMID:11175284 Incidence: 31/35 patients Comments: Metcalfe K et al., 2000 reported on ELN mutations in 35 out of 100 patients with supravalvar aortic stenosis (SVAS) and/or peripheral pulmonary stenosis (PPS). Personal or familial history of SVAS was reported in 31 ELN mutation carriers. Reference: PMID:10942104 Incidence: 5/5 patients Comments: Urban Z et al., 2000 reported on heterozygous ELN mutations in 4 large families with SVAS and peripheral pulmonary stenosis. In addition, a patient with SVAS and PPS was found compound heterozygous for ELN mutations. The presence of unaffected carriers in these families suggests that ELN mutations are associated with reduced penetrance. Reference: PMID:16944981 Incidence: 1/1 patients Comments: Arrington CB et al., 2006 reported on an ELN mutation a large family with SVAS and supravalvar pulmonary stenosis (SVPS). Ten mutation carriers were diagnosed with SVAS, which was associated with SVPS in 7 individuals. Reference: PMID:9215670 Incidence: 7/7 patients Comments: Li DY et al., 1997 reported on ELN point mutations in four familial cases and in three sporadic cases with SVAS (1 out of 3 mutations in these sporadic cases occurred de novo). Add another study.

Supravalvar pulmonary trunk stenosis

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:16944981 (single case report ) Inheritence: Isolated sporadic or autosomal dominant familial SVAS with central or peripheral pulmonary artery stenosis (OMIM:185500). Incidence: Mutations in ELN were identified in 35 out of 100 patients with SVAS and normal karyotypes (Metcalfe K et al., 2000). Comments: Studies: (2) [ show ] [ hide ] Reference: PMID:16944981 Incidence: 1/1 patients Comments: Arrington CB et al., 2006 reported on an ELN mutation a large family with SVAS and supravalvar pulmonary stenosis (SVPS). Ten mutation carriers were diagnosed with SVAS, which was associated with SVPS in 7 individuals. Reference: PMID:11175284 Incidence: 4/35 patients Comments: Metcalfe K et al., 2000 reported on ELN mutations in 35 out of 100 patients with supravalvar aortic stenosis (SVAS) and/or peripheral pulmonary stenosis (PPS). Personal or familial history of SVPS was reported in 4 ELN mutation carriers. Add another study.

Add another phenotype.

Syndromic

Aortic valvar stenosis - congenital

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:15557730 (single case report ) PMID:14666267 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267); Case report of two identical twin boys with severe calcification at the aortic valves, mitral anterior leaflets, and mitral annuli in both cases (PMID:15557730) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Bicuspid aortic valve

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:14666267 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Mitral valvar prolapse

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:3415298 (population study with screening of similar CHD patients and normal controls ) PMID:1481839 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: 66 patients with Williams-Beuren syndrome: 15% clinical and echocardiographic incidence of mitral valve prolapse (PMID:3415298); mitral valve prolapse in 3/10 Williams-Beuren (PMID:1481839) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Peripheral pulmonary arterial stenoses - at/beyond hilar bifurcation

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:16930010 (review ) PMID:9071842 (single case report ) PMID:15149554 (basic research ) PMID:14666267 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: Allelic loss of ELN in 2 children with Williams and supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS) (PMID:9071842); ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Subaortic stenosis

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:8261654 (single case report ) PMID:14666267 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Supravalvar aortic stenosis

Support: confirmed: 2 or more independent reports > 1% incidence References: PMID:16930010 (review ) PMID:9071842 (single case report ) PMID:15149554 (basic research ) PMID:14666267 (population study with screening of similar CHD patients and normal controls ) Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia Incidence: Allelic loss of ELN in 2 children with Williams and supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS) (PMID:9071842); ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267) Comments: Studies: (0) [ show ] [ hide ] Add another study.

Add another phenotype.

Protein interaction partners

Patients reports for ELN

• case 101 Clinical data Phenotype

• case 1330 Clinical data Phenotype

Translocations

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Mutations in ELN

Representation of protein ELN

Heart expression domain of ELN

No specified expression domain for ELN

Add a new domain where gene ELN is expressed

Associated CHDs found by automated text mining

AGeneApart Method

• Aortic stenosis (09.15.92) (sig = 42.407)

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• Pulmonary arterial stenosis (09.10.01) (sig = 0.135)

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Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects

This page contributors

• Jeroen Breckpot - CME Leuven (Belgium) (association, study)