GJB2: the spectrum of deafness-causing allele variants and their phenotype

Hela Azaiez; G. Parker Chamberlin; Stephanie M Fischer; Chelsea L Welp; Sai D Prasad; R. Thomas Taggart; Ignacio Del Castillo; Guy Van Camp; Richard J H Smith

doi:10.1002/HUMU.20084

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GJB2: the spectrum of deafness-causing allele variants and their phenotype

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GJB2: the spectrum of deafness-causing allele variants and their phenotype

Hela Azaiez, G. Parker Chamberlin, Stephanie M Fischer, Chelsea L Welp, Sai D Prasad, R. Thomas Taggart, Ignacio Del Castillo, Guy Van Camp and Richard J H Smith

Human mutation, Vol.24(4), pp.305-311

01/01/2004

DOI: 10.1002/HUMU.20084

PMID: 15365987

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Abstract

Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing. If two deafness-causing mutations of GJB2 (encoding Connexin 26) were identified, further screening was not performed. If only a single deafness-causing mutation was identified, we screened for the g.1777179_2085947del (hereafter called del(GJB6-D13S1830); GenBank NT_024524.13) and mutations in the noncoding region of GJB2. Phenotype-genotype correlations were evaluated by categorizing mutations as either protein truncating or nontruncating. A total of 205 persons carried two GJB2 exon 2 mutations and were diagnosed as having DFNB1; 100 persons carried only a single deafness-causing allele variant of exon 2. A total of 37 of these persons were c.35delG carriers, and 51 carried other allele variants of GJB2. Persons diagnosed with DFNB1 segregating two truncating/nonsense mutations had a more severe phenotype than persons carrying two missense mutations, with mean hearing impairments being 88 and 37%, respectively (P < 0.05). The number of deaf c.35delG carriers was greater than expected when compared to the c.35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants. Copyright 2004 Wiley-Liss, Inc.

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Title: Subtitle: GJB2: the spectrum of deafness-causing allele variants and their phenotype
Creators: Hela Azaiez
G. Parker Chamberlin
Stephanie M Fischer
Chelsea L Welp
Sai D Prasad
R. Thomas Taggart
Ignacio Del Castillo
Guy Van Camp
Richard J H Smith
Resource Type: Journal article
Publication Details: Human mutation, Vol.24(4), pp.305-311
DOI: 10.1002/HUMU.20084
PMID: 15365987
NLM abbreviation: Hum Mutat
ISSN: 1059-7794
eISSN: 1098-1004
Language: English
Date published: 01/01/2004
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; Otolaryngology; Internal Medicine
Record Identifier: 9984006459202771

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