Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
| Autor: | P. van Hauwe, C.W.R.J. Cremers, P.H.G.M. Willems, M. Verstreken, Paul Coucke, P.M. Kelley, K. Kastury, P. Van de Heyning, G. Van Camp, Isabelle Schatteman, Frank Declau, Richard J.H. Smith, Wyman T. McGuirt, R.J.H. Ensink, D. van Velzen, Henri A. M. Marres, Shalender Bhasin, Henricus P. M. Kunst, J. Meyers, Shelley D. Smith |
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| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: |
Genetic Markers
Male Potassium Channels Genetic Linkage Hearing loss DNA Mutational Analysis Molecular Sequence Data Erfelijk gehoorverlies Deafness Biology medicine.disease_cause Genetics of hearing Gene mapping Genetic linkage Genetics medicine Humans Missense mutation Amino Acid Sequence Molecular Biology Gene Genetics (clinical) Expressed Sequence Tags Mutation KCNQ Potassium Channels Sequence Homology Amino Acid Chromosome Mapping General Medicine Chromosomes Human Pair 1 Potassium Channels Voltage-Gated Genetic marker Female medicine.symptom Sequence Alignment KCNQ4 |
| Zdroj: | Human molecular genetics Human Molecular Genetics, 8, 1321-1328 Human Molecular Genetics, 8, 7, pp. 1321-1328 |
| ISSN: | 0964-6906 |
| Popis: | We have previously found linkage to chromosome 1p34 in five large families with autosomal dominant non-syndromic hearing impairment (DFNA2). In all five families, the connexin31 gene ( GJB3 ), located at 1p34 and responsible for non-syndromic autosomal dominant hearing loss in two small Chinese families, has been excluded as the responsible gene. Recently, a fourth member of the KCNQ branch of the K+channel family, KCNQ4, has been cloned. KCNQ4 was mapped to chromosome 1p34 and a single mutation was found in three patients from a small French family with non-syndromic autosomal dominant hearing loss. In this study, we have analysed the KCNQ4 gene for mutations in our five DFNA2 families. Missense mutations altering conserved amino acids were found in three families and an inactivating deletion was present in a fourth family. No KCNQ4 mutation could be found in a single DFNA2 family of Indonesian origin. These results indicate that at least two and possibly three genes responsible for hearing impairment are located close together on chromosome 1p34 and suggest that KCNQ4 mutations may be a relatively frequent cause of autosomal dominant hearing loss. |
| Databáze: | OpenAIRE |
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