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Article

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

European journal of human genetics : EJHG - 1 May 2008

Hilgert Nele, Topsakal Vedat, van Dinther Joost, Offeciers Erwin, Van de Heyning Paul, Van Camp Guy

Abstract excerpt

Hearing loss is the most common sensory disorder, affecting 1 in 650 newborns. Linkage analysis revealed linkage to locus DFNA22 in two Belgian families 1 and 2 with autosomal dominant sensorineural hearing loss. As MYO6 has previously been reported as responsible for the hearing loss at loci DFNA22 and DFNB37, respectively, DNA sequencing of the coding region and the promoter of MYO6 was performed but this...

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Source

Identifiers

PMID: 18212818
DOI: 10.1038/sj.ejhg.5202000

Genes

MYO6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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