| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. | |
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MedLine Citation:
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PMID: 9139825 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea. |
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Authors:
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D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Nature Volume: 387 ISSN: 0028-0836 ISO Abbreviation: Nature Publication Date: 1997 May |
Date Detail:
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Created Date: 1997-05-21 Completed Date: 1997-05-21 Revised Date: 2009-09-29 |
Medline Journal Info:
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Nlm Unique ID: 0410462 Medline TA: Nature Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 80-3 Citation Subset: IM |
Affiliation:
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Academic Department of Dermatology, St Bartholomew's and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK. DavidvPvKelsell@sbphrd.com.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Chromosomes, Human, Pair 13 Cochlea / metabolism Connexins / biosynthesis, genetics* DNA Mutational Analysis Deafness / genetics* Female Haplotypes Humans Immunohistochemistry Male Pedigree Phenotype Point Mutation* Polymerase Chain Reaction Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Connexins; 127120-53-0/connexin 26 |
| Comments/Corrections | |
Comment In:
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Nature. 1998 Aug 13;394(6694):630-1
[PMID:
9716127
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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