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 journalArticlepeer-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 languageEnglish
Pages (from-to)635-640
Number of pages6
JournalAmerican Journal of Human Genetics
Volume69
Issue number3
DOIs
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss'. Together they form a unique fingerprint.

Cite this