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

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

  • Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156.
S Melchionda 1,  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
Affiliations

Affiliation

  • 1 Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy.
PMID: 11468689 DOI: 10.1086/323156
Abstract

Mutations in the unconventional Myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell'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.

Figures