title: MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
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.
authors.affiliation: Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Melchionda
authors.forename: N
authors.initials: N
authors.lastname: Ahituv
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: T
authors.initials: T
authors.lastname: Sobe
authors.forename: F
authors.initials: F
authors.lastname: Glaser
authors.forename: R
authors.initials: R
authors.lastname: Rabionet
authors.forename: M L
authors.initials: ML
authors.lastname: Arbones
authors.forename: A
authors.initials: A
authors.lastname: Notarangelo
authors.forename: E
authors.initials: E
authors.lastname: Di Iorio
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: K B
authors.initials: KB
authors.lastname: Avraham
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: 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
chemical_list: C089785:myosin VI; D018995:Myosin Heavy Chains