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

@article{Melchionda2001MYO6TH,
  title={MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.},
  author={Salvatore Melchionda and Nadav Ahituv and Luigi Bisceglia and Tama Sobe and Fabian Glaser and Raquel Rabionet and Mar{\'i}a Lourdes Arbon{\'e}s and Angelantonio Notarangelo and Enzo Di Iorio and Massimo Carella and Leopoldo Zelante and Xavier Estivill and Karen B. Avraham and Paolo Gasparini},
  journal={American journal of human genetics},
  year={2001},
  volume={69 3},
  pages={635-40}
}
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.