Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)
| Autor: | Pio D'Adamo, Francesca Donaudy, Paolo Gasparini, Elio Marciano, Angela D'Eustacchio, Annamaria Franzè, Maria Vittoria Cubellis, Monica Errichiello, Claudio Saulino, Gennaro Auletta, Pasquale Giannini, Francesca Di Leva, Alfredo Ciccodicola |
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| Přispěvatelé: | Di Leva, F, D'Adamo, P, Cubellis, MARIA VITTORIA, D'Eustacchio, A, Errichiello, M, Saulino, C, Auletta, G, Giannini, P, Donaudy, F, Ciccodicola, A, Gasparini, P, Franze', Annamaria, Marciano, Elio, DI LEVA, F, Franz, A, D'Adamo, ADAMO PIO, Cubellis, Mv, Gasparini, Paolo, Franze, A, Marciano, E. |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Models
Molecular Male Sensorineural: genetics Physiology Dyneins: genetics Chromosome Disorders Sensorineural genetic [Myosins] genetic [Sensorineural] Protein structure Dyneins: chemistry Myosins: genetics Models Myosin Missense mutation Vestibular Disease Genetics chemistry [Dyneins] Dynein Chromosome Mapping Sensory Systems Pedigree Vestibular Diseases Dominant hearing lo Sensorineural hearing loss Female Molecular modelling medicine.symptom Vestibular Diseases: complications Human Genotype Myosins: chemistry Vestibular Diseases: genetics MYO7A Hearing loss Hearing Loss Sensorineural Molecular Sequence Data Mutation Missense Locus (genetics) complication [Vestibular Diseases] macromolecular substances Biology Myosins chemistry [Myosins] Missense: genetics Speech and Hearing Myosin VIIA medicine otorhinolaryngologic diseases dominant hearing loss missense mutation molecular modelling motor head domain myosin VIIA Humans Amino Acid Sequence Hearing Loss Hearing Lo Base Sequence genetic [Dyneins] Auditory Threshold Chromosome Disorders: genetics Dyneins Missense Molecular Mutation genetic [Chromosome Disorders] medicine.disease Chromosome Disorder Otorhinolaryngology genetic [Missense] sense organs genetics [Vestibular Diseases] Motor head domain Model |
| Zdroj: | Audiology & neuro-otology 11 (2006): 157–164. doi:10.1159/000091199 info:cnr-pdr/source/autori: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.; Franze A.; Marciano E./titolo:Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)/doi:10.1159%2F000091199/rivista:Audiology & neuro-otology (Print)/anno:2006/pagina_da:157/pagina_a:164/intervallo_pagine:157–164/volume:11 |
| DOI: | 10.1159/000091199 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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