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PMID: 11468689 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 69 ·No. 3 ·2001-09-00 ·Pages 635-40

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P

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.

MeSH Terms
Amino Acid Sequence Animals Chromosome Mapping Chromosomes, Human, Pair 6 Deafness/genetics Disease Models, Animal Humans Mice Models, Molecular Molecular Sequence Data Mutation Myosin Heavy Chains/chemistry,genetics Pedigree Protein Conformation Sequence Homology, Amino Acid
Chemicals
myosin VI Myosin Heavy Chains
Authors & Affiliations
14 authors, click to expand affiliations / ORCID
Melchionda S
Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy.
Ahituv N
Bisceglia L
Sobe T
Glaser F
Rabionet R
Arbones M L
Notarangelo A
Di Iorio E
Carella M
Zelante L
Estivill X
Avraham K B
Gasparini P
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20 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/323156
Published
2001-09-00
Epub
2001-00-20
Pages
635-40
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1235492
Subset
IM
Grants
Telethon · TGM06S01 · Italy
FIC NIH HHS · 1 R03 TW01108-01 · United States
Databases
GENBANK
U90236
OMIM
276903, 600970, 602232, 602666
External Links
PubMed source DOI: 10.1086/323156 PMC Full Text View journal details
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