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Article

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 - 1 Sept 2001

Melchionda S, 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

Abstract excerpt

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 fami...

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Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Disease Models, Animal

Share to Models, Molecular

Share to Myosin Heavy Chains

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Share to Sequence Homology, Amino Acid

Source

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Identifiers

PMID: 11468689
DOI: 10.1086/323156
PMCID: PMC1235492

Genes

MYO6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11468689-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.PMID 11468689Read ↗

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A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.Semantic proximity Read ↗

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.Semantic proximity Read ↗

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