MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
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.
Melchionda
S
S
Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy.
Ahituv
N
N
Bisceglia
L
L
Sobe
T
T
Glaser
F
F
Rabionet
R
R
Arbones
M L
ML
Notarangelo
A
A
Di Iorio
E
E
Carella
M
M
Zelante
L
L
Estivill
X
X
Avraham
K B
KB
Gasparini
P
P
D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003638:Deafness / Q000235:genetics*; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D011487:Protein Conformation; D017386:Sequence Homology, Amino Acid
C089785:myosin VI; D018995:Myosin Heavy Chains