Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

Paul J. Coucke, Peter Van Hauwe, Philip M. Kelley, Henricus Kunst, Isabelle Schatteman, Désirée Van Velzen, Johan Meyers, Robbert J. Ensink, Margriet Verstreken, Frank Declau, Henri Marres, Kumar Kastury, Shalender Bhasin, Wyman T. McGuirt, Richard J.H. Smith, Cor W.R.J. Cremers, Paul Van De Heyning, Patrick J. Willems, Shelley D. Smith, Guy Van Camp

Research output: Contribution to journalArticle

135 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1321-1328
Number of pages8
JournalHuman Molecular Genetics
Volume8
Issue number7
DOIs
StatePublished - 1999

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Coucke, P. J., Van Hauwe, P., Kelley, P. M., Kunst, H., Schatteman, I., Van Velzen, D., Meyers, J., Ensink, R. J., Verstreken, M., Declau, F., Marres, H., Kastury, K., Bhasin, S., McGuirt, W. T., Smith, R. J. H., Cremers, C. W. R. J., Van De Heyning, P., Willems, P. J., Smith, S. D., & Van Camp, G. (1999). Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Human Molecular Genetics, 8(7), 1321-1328. https://doi.org/10.1093/hmg/8.7.1321