Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
| Autor: | Liang Jn, Irene M. Leigh, Robert F. Mueller, Howard P. Stevens, Dunlop J, Gareth Parry, David P. Kelsell, Nicholas Lench |
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| Rok vydání: | 1997 |
| Předmět: |
Male
DNA Mutational Analysis Biology Deafness medicine.disease_cause Polymerase Chain Reaction Connexins Erythrokeratodermia variabilis otorhinolaryngologic diseases medicine Humans Point Mutation Nonsyndromic deafness Cochlea Aged Genetics Mutation Multidisciplinary Chromosomes Human Pair 13 Waardenburg syndrome Point mutation Haplotype Syndrome medicine.disease Immunohistochemistry Pedigree Connexin 26 Phenotype Haplotypes biology.protein Female GJB6 |
| Zdroj: | Nature. 387(6628) |
| ISSN: | 0028-0836 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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