Connexin mutations and hearing loss

Daryl A Scott; Richard J.H Smith; Michelle L Kraft; Edwin M Stone; Val C Sheffield

doi:10.1038/34079

Back

Journal article

Open access

Peer reviewed

Connexin mutations and hearing loss

Daryl A Scott, Richard J.H Smith, Michelle L Kraft, Edwin M Stone and Val C Sheffield

Nature, Vol.391(6662), pp.32-32

01/01/1998

DOI: 10.1038/34079

PMID: 9422505

Files and links (1)

url

https://doi.org/10.1038/34079View

Published (Version of record) Open Access

Abstract

Kelsell et al. provide convincing evidence that mutations in the gene encoding the gap-junction protein connexin 26 (Cx26) are responsible for autosomal recessive non-syndromic hearing loss at the DFNB1 locus on chromosome 13q12. They also report a small family with apparent autosomal dominant congenital hearing loss and autosomal dominant palmoplantar keratoderma (PPK) in which two siblings with profound hearing loss are heterozygous for a single base-pair substitution resulting in a methionine-to-threonine (ATG-to-ACG) change in codon 34 (M34T) of Cx26 (refs 1, 2). The authors conclude that the M34T change is the genetic basis of profound hearing loss in this family and suggest, on this basis, that the Cx26 gene is responsible for autosomal dominant non-syndromic hearing loss (ADNSHL) at the DFNA3 locus chromosome 13q12 (ref. 3). We have identified a family in which the M34T variant is not associated with hearing loss, suggesting that this conclusion might be premature.

Details

Title: Subtitle: Connexin mutations and hearing loss
Creators: Daryl A Scott - University of Iowa Hospitals and Clinics
Richard J.H Smith - University of Iowa Hospitals and Clinics
Michelle L Kraft - University of Iowa Hospitals and Clinics
Edwin M Stone - University of Iowa Hospitals and Clinics
Val C Sheffield - University of Iowa Hospitals and Clinics
Resource Type: Journal article
Publication Details: Nature, Vol.391(6662), pp.32-32
DOI: 10.1038/34079
PMID: 9422505
NLM abbreviation: Nature
ISSN: 0028-0836
eISSN: 1476-4687
Language: English
Date published: 01/01/1998
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9983979995102771

Metrics

15 Record Views

92 Times Cited - Web of Science

See more details