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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)157-164
Number of pages8
JournalAudiology and Neurotology
Volume11
Issue number3
DOIs
Publication statusPublished - Apr 2006

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Keywords

  • Dominant hearing loss
  • Missense mutation
  • Molecular modelling
  • Motor head domain
  • Myosin VIIA

ASJC Scopus subject areas

  • Physiology
  • Otorhinolaryngology
  • Neuroscience(all)

Cite this

Di Leva, F., D'Adamo, P., Cubellis, M. V., D'Eustacchio, A., Errichiello, M., Saulino, C., Auletta, G., Giannini, P., Donaudy, F., Ciccodicola, A., Gasparini, P., Franzè, A., & Marciano, E. (2006). Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiology and Neurotology, 11(3), 157-164. https://doi.org/10.1159/000091199