MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

S. Melchionda; N. Ahituv; L. Bisceglia; T. Sobe; F. Glaser; R. Rabionet; M. L. Arbones; A. Notarangelo; E. Di Iorio; M. Carella; L. Zelante; X. Estivill; K. B. Avraham; P. Gasparini

doi:10.1086/323156

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

S. Melchionda, N. Ahituv, L. Bisceglia, T. Sobe, F. Glaser, R. Rabionet, M. L. Arbones, A. Notarangelo, E. Di Iorio, M. Carella, L. Zelante, X. Estivill, K. B. Avraham, P. Gasparini

Research output: Contribution to journal › Article › peer-review

Abstract

Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Shell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.

Original language	English
Pages (from-to)	635-640
Number of pages	6
Journal	American Journal of Human Genetics
Volume	69
Issue number	3
DOIs	https://doi.org/10.1086/323156
Publication status	Published - 2001

ASJC Scopus subject areas

Genetics

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Melchionda, S., Ahituv, N., Bisceglia, L., Sobe, T., Glaser, F., Rabionet, R., Arbones, M. L., Notarangelo, A., Di Iorio, E., Carella, M., Zelante, L., Estivill, X., Avraham, K. B., & Gasparini, P. (2001). MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American Journal of Human Genetics, 69(3), 635-640. https://doi.org/10.1086/323156

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. / Melchionda, S.; Ahituv, N.; Bisceglia, L.; Sobe, T.; Glaser, F.; Rabionet, R.; Arbones, M. L.; Notarangelo, A.; Di Iorio, E.; Carella, M.; Zelante, L.; Estivill, X.; Avraham, K. B.; Gasparini, P.

In: American Journal of Human Genetics, Vol. 69, No. 3, 2001, p. 635-640.

Research output: Contribution to journal › Article › peer-review

Melchionda, S, Ahituv, N, Bisceglia, L, Sobe, T, Glaser, F, Rabionet, R, Arbones, ML, Notarangelo, A, Di Iorio, E, Carella, M, Zelante, L, Estivill, X, Avraham, KB & Gasparini, P 2001, 'MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss', American Journal of Human Genetics, vol. 69, no. 3, pp. 635-640. https://doi.org/10.1086/323156

Melchionda, S. ; Ahituv, N. ; Bisceglia, L. ; Sobe, T. ; Glaser, F. ; Rabionet, R. ; Arbones, M. L. ; Notarangelo, A. ; Di Iorio, E. ; Carella, M. ; Zelante, L. ; Estivill, X. ; Avraham, K. B. ; Gasparini, P. / MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. In: American Journal of Human Genetics. 2001 ; Vol. 69, No. 3. pp. 635-640.

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abstract = "Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Shell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.",

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AU - Bisceglia, L.

AU - Sobe, T.

AU - Glaser, F.

AU - Rabionet, R.

AU - Arbones, M. L.

AU - Notarangelo, A.

AU - Di Iorio, E.

AU - Carella, M.

AU - Zelante, L.

AU - Estivill, X.

AU - Avraham, K. B.

AU - Gasparini, P.

PY - 2001

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