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 P. Estivill, Karen B. Avraham, Paolo Gasparini

Research output: Contribution to journalArticle

151 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Deafness
Chromosomes
Genes
Missense Mutation
Hearing Loss
Mutation
Nonsyndromic Deafness

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. / Melchionda, Salvatore; Ahituv, Nadav; Bisceglia, Luigi; Sobe, Tama; Glaser, Fabian; Rabionet, Raquel; Arbones, Maria Lourdes; Notarangelo, Angelo; Di Iorio, Enzo; Carella, Massimo; Zelante, Leopoldo; Estivill, Xavier P.; Avraham, Karen B.; Gasparini, Paolo.

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

Research output: Contribution to journalArticle

Melchionda, S, Ahituv, N, Bisceglia, L, Sobe, T, Glaser, F, Rabionet, R, Arbones, ML, Notarangelo, A, Di Iorio, E, Carella, M, Zelante, L, Estivill, XP, 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, Salvatore ; Ahituv, Nadav ; Bisceglia, Luigi ; Sobe, Tama ; Glaser, Fabian ; Rabionet, Raquel ; Arbones, Maria Lourdes ; Notarangelo, Angelo ; Di Iorio, Enzo ; Carella, Massimo ; Zelante, Leopoldo ; Estivill, Xavier P. ; Avraham, Karen B. ; Gasparini, Paolo. / 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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AU - Sobe, Tama

AU - Glaser, Fabian

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AU - Di Iorio, Enzo

AU - Carella, Massimo

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AU - Gasparini, Paolo

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