TY - JOUR
T1 - MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
AU - Melchionda, S.
AU - Ahituv, N.
AU - Bisceglia, L.
AU - Sobe, T.
AU - Glaser, F.
AU - Rabionet, R.
AU - Arbones, M. L.
AU - Notarangelo, A.
AU - Di Iorio, E.
AU - Carella, M.
AU - Zelante, L.
AU - Estivill, X.
AU - Avraham, K. B.
AU - Gasparini, P.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
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U2 - 10.1086/323156
DO - 10.1086/323156
M3 - Article
C2 - 11468689
AN - SCOPUS:0034887805
VL - 69
SP - 635
EP - 640
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 3
ER -