{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["71(1)"],"submitter":["Le Caignec C"],"pubmed_abstract":["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"],"journal":["American journal of human genetics"],"pagination":["180-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC384977"],"repository":["biostudies-literature"],"pubmed_title":["Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1."],"pmcid":["PMC384977"],"pubmed_authors":["Moisan JP","Gayet M","Le Caignec C","Schott JJ","Lefevre M","Chaventre A","Calais C"],"additional_accession":[]},"is_claimable":false,"name":"Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.","description":"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","dates":{"release":"2002-01-01T00:00:00Z","publication":"2002 Jul","modification":"2025-04-05T00:33:39.738Z","creation":"2019-03-27T00:50:19Z"},"accession":"S-EPMC384977","cross_references":{"pubmed":["12022040"],"doi":["10.1086/341327"]}}