Document Detail


Genetic aspects of congenital sensorineural hearing loss.
MedLine Citation:
PMID:  22770557     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Hearing loss is the most common sensory disability with an incidence of one over 1000newborns. Hearing loss may be caused by environmental and genetic factors; inherited causes are assumed in two thirds of cases. There is a great clinical and genetic heterogenicity. All inheritance modes have been described. Mutations in the GJB2 gene, which encodes connexin 26, are mainly responsible for sensorineural deafness resulting in prelingual non syndromic autosomal recessive phenotypes DFNB1. The 35delG mutation of this gene is very frequent (70% of the cases). Thus, 35delG is, with the delta F508 mutation of the CFTR gene, the most frequent human pathogenic mutation known. Hearing loss might also be associated with other clinical features. Some of these syndromes, including hearing loss, have to be looked for systematically because of their frequency, of their possible clinical presentation as an isolated hearing loss and of the possibility of a medical treatment.
Authors:
M Blanchard; B Thierry; S Marlin; F Denoyelle
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-4
Journal Detail:
Title:  Archives de pediatrie : organe officiel de la Societe francaise de pediatrie     Volume:  -     ISSN:  1769-664X     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9421356     Medline TA:  Arch Pediatr     Country:  -    
Other Details:
Languages:  FRE     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Affiliation:
Service d'ORL et chirurgie cervicofaciale, hôpital Trousseau, AP-HP, 26, avenue du Docteur-Arnold-Netter, 75012 Paris, France.
Vernacular Title:
Aspects génétiques de la surdité
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