RGD Reference Report - Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. - Rat Genome Database

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Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

Authors: Le Caignec, C  Lefevre, M  Schott, JJ  Chaventre, A  Gayet, M  Calais, C  Moisan, JP 
Citation: Le Caignec C, etal., Am J Hum Genet. 2002 Jul;71(1):180-6. Epub 2002 May 17.
RGD ID: 1582342
Pubmed: PMID:12022040   (View Abstract at PubMed)
PMCID: PMC384977   (View Article at PubMed Central)
DOI: DOI:10.1086/341327   (Journal Full-text)

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
congenital heart disease  IAGP 1582342 RGD 
congenital heart disease  ISOJAG1 (Homo sapiens)1582342; 1582342 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Jag1  (jagged canonical Notch ligand 1)

Genes (Mus musculus)
Jag1  (jagged 1)

Genes (Homo sapiens)
JAG1  (jagged canonical Notch ligand 1)


Additional Information