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Article

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

Audiology & neuro-otology - 1 Jan 2013

Volk Alexander E, Lang-Roth Ruth, Yigit Goekhan, Borck Guntram, Nuernberg Gudrun, Rosenkranz Stephan, Nuernberg Peter, Kubisch Christian, Beutner Dirk

Abstract excerpt

Mutations in MYO6 encoding an atypical myosin motor protein important for inner ear hair cell function have been associated with autosomal recessive (DFNB37) and autosomal dominant (DFNA22) types of hearing loss in a few families worldwide. After genome-wide linkage analysis, we identified a novel MYO6 mutation at the splice acceptor site of exon 7 (c.554-1G>A) in an extended German family with autosomal dominant...

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Source

Identifiers

PMID: 23635807
DOI: 10.1159/000350246

Genes

MYO6

Provenance

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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.PMID 23635807Read ↗

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.Semantic proximity Read ↗

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Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.Semantic proximity Read ↗

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