Document Detail


Advances in hereditary deafness.
MedLine Citation:
PMID:  11589958     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Progress in the Human Genome Project, availability of cochlea-specific cDNA libraries, and development of murine models of deafness have resulted in rapid discovery of many loci and corresponding genes for deafness. Up to now, the chromosomal locations of about 70 genes for non-syndromic deafness have been mapped, and the genes of more than 20 loci have been identified and characterised. Mutations in one gene, connexin 26 (CX26GJB2), are responsible for most cases of recessive non-syndromic deafness, accounting for 30-40% of all childhood genetic deafness in some populations (eg, white people of western European descent). We summarise advances in identification of genes for deafness and provide a guide to the clinical approach to diagnosis of patients with hearing loss.
Authors:
M Tekin; K S Arnos; A Pandya
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Lancet     Volume:  358     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  2001 Sep 
Date Detail:
Created Date:  2001-10-08     Completed Date:  2001-10-18     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1082-90     Citation Subset:  AIM; IM    
Affiliation:
Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA.
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MeSH Terms
Descriptor/Qualifier:
Deafness* / classification,  diagnosis,  epidemiology,  genetics
Ear / anatomy & histology*,  physiology
Humans
Mutation
Phenotype
Severity of Illness Index

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


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