title: 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.affiliation: Unit of Audiology, Department of Neurosciences, University Federico II, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Leva
authors.forename: Pio
authors.initials: P
authors.lastname: D'Adamo
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: Cubellis
authors.forename: Angela
authors.initials: A
authors.lastname: D'Eustacchio
authors.forename: Monica
authors.initials: M
authors.lastname: Errichiello
authors.forename: Claudio
authors.initials: C
authors.lastname: Saulino
authors.forename: Gennaro
authors.initials: G
authors.lastname: Auletta
authors.forename: Pasquale
authors.initials: P
authors.lastname: Giannini
authors.forename: Francesca
authors.initials: F
authors.lastname: Donaudy
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Annamaria
authors.initials: A
authors.lastname: Franzè
authors.forename: Elio
authors.initials: E
authors.lastname: Marciano
mesh_terms: D000595:Amino Acid Sequence; D001309:Auditory Threshold; D001483:Base Sequence; D025063:Chromosome Disorders / Q000235:genetics*; D002874:Chromosome Mapping; D004398:Dyneins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D000081412:Myosin VIIa; D009218:Myosins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D015837:Vestibular Diseases / Q000150:complications / Q000235:genetics
chemical_list: C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins