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

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, Maria Lourdes Arbones, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Estivill, Karen B. Avraham, Paolo 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
StatePublished - 2001

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