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Article

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Audiology & neuro-otology - 1 Jan 2006

Di Leva Francesca, D'Adamo Pio, Cubellis Maria Vittoria, D'Eustacchio Angela, Errichiello Monica, Saulino Claudio, Auletta Gennaro, Giannini Pasquale, Donaudy Francesca, Ciccodicola Alfredo, Gasparini Paolo, Franzè Annamaria, Marciano Elio

Abstract excerpt

We ascertained a large Italian family with an autosomal dominant form of non-syndromic sensorineural hearing loss with vestibular involvement. A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identified a new missense mutation resulting in an Ala230Val change in the motor domain of the myosin VIIA. Myosin VIIA has already been implicated in several forms of...

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Identifiers

PMID: 16449806
DOI: 10.1159/000091199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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