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

Abstract

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 deafness, but this is the third mutation causing a dominant form of deafness, located in the myosin VIIA motor domain in a region never involved in hearing loss until now. A modelled protein structure of myosin VII motor domain provides evidence for a significant functional effect of this missense mutation.

• Authors: Francesca Di Leva, Pio D'Adamo, Maria Vittoria Cubellis, Angela D'Eustacchio, Monica Errichiello, Claudio Saulino, Gennaro Auletta, Pasquale Giannini, Francesca Donaudy, Alfredo Ciccodicola, Paolo Gasparini, Annamaria Franzè, Elio Marciano
• Journal: Audiology & neuro-otology (Audiol Neurootol) Vol. 11 Issue 3 Pg. 157-64 ( 2006) ISSN: 1420-3030 [Print] Switzerland
• PMID: 16449806 (Publication Type: Journal Article)
• Copyright: Copyright (c) 2006 S. Karger AG, Basel.

Chemical References

• MYO7A protein, human
• Myosin VIIa
• Myosins
• Dyneins

Topics

• Amino Acid Sequence
• Auditory Threshold
• Base Sequence
• Chromosome Disorders (genetics)
• Chromosome Mapping
• Dyneins (chemistry, genetics)
• Female
• Genotype
• Hearing Loss, Sensorineural (genetics)
• Humans
• Male
• Models, Molecular
• Molecular Sequence Data
• Mutation, Missense (genetics)
• Myosin VIIa
• Myosins (chemistry, genetics)
• Pedigree
• Vestibular Diseases (complications, genetics)