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| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness |
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| Author(s): Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM |
| Source: NATURE Volume: 387 Issue: 6628 Pages: 80-83 Published: MAY 1 1997 |
| Times Cited: 669 References: 22 |
| Abstract: Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children(1). 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(2-4), 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 nonsyndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea. |
| Document Type: Article |
| Language: English |
| Reprint Address: Kelsell, DP (reprint author), UNIV LONDON QUEEN MARY & WESTFIELD COLL, ST BARTHOLOMEWS & ROYAL LONDON SCH MED & DENT, LONDON E1 2AT, ENGLAND |
Addresses:
1. ST JAMES UNIV HOSP, MOL MED UNIT, LEEDS LS9 7TF, W YORKSHIRE ENGLAND
2. UCL, INST LARYNGOL & OTOL, TEMPORAL BONE LAB, LONDON WC1X 8EE, ENGLAND
3. ST LUKES HOSP, DEPT PAEDIAT, BRADFORD BD5 0NA, W YORKSHIRE ENGLAND |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: WW758 |
| ISSN: 0028-0836 |
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