Document Detail


GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
MedLine Citation:
PMID:  20234132     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on 335 patients (319 families) with mild-to-profound nonsyndromic sensorineural hearing loss. We identified 178 mutated GJB2 alleles representing 29 different sequence changes (including 3 novel mutations: Q7P, N14D, H100Q), and 2 alleles with the deletion del(GJB6-D13S1830) of the GJB6 gene. Eleven GJB2 mutations (119 mutated alleles) were truncating (T), and 18 mutations (59 alleles) were nontruncating (NT). Biallelic GJB2 mutations were found in 71 patients (21.2%; 67 families; 25 different genotypes). Audiograms of 62 patients (56 families) with biallelic GJB2 mutations typically indicated a profound hearing loss with T/T mutations, moderate hearing loss with T/NT mutations, and mild hearing impairment with NT/NT mutations (p < 0.01, Student's t test). From 37 patients (34 families) with biallelic GJB2 mutations, audiograms at different ages were available and indicated progressive hearing loss (>15 dB) in 10 patients (27.0%, 10 families). Interestingly, we identified an unexpectedly large subset of patients (n = 29; 8.7%) presenting with only one GJB2 mutation (n = 14 T/wild-type; n = 15 NT/wild-type). This strongly suggests the presence of additional recessive mutations that are not detected by current GJB2 mutation and GJB6 deletion analyses.
Authors:
O Bartsch; A Vatter; U Zechner; N Kohlschmidt; C Wetzig; A Baumgart; S Nospes; T Haaf; Annerose Keilmann
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-03-17
Journal Detail:
Title:  Audiology & neuro-otology     Volume:  15     ISSN:  1421-9700     ISO Abbreviation:  Audiol. Neurootol.     Publication Date:  2010  
Date Detail:
Created Date:  2010-09-10     Completed Date:  2010-12-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9606930     Medline TA:  Audiol Neurootol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  375-82     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Affiliation:
Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Audiometry
Connexins / genetics*
Female
Gene Frequency
Genes, Recessive
Genetic Association Studies
Genotype
Germany
Hearing Loss, Sensorineural / genetics*
Humans
Male
Mutation
Phenotype
Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/Connexins; 127120-53-0/connexin 26

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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