Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
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.
Di Leva
Francesca
F
Unit of Audiology, Department of Neurosciences, University Federico II, Naples, Italy.
D'Adamo
Pio
P
Cubellis
Maria Vittoria
MV
D'Eustacchio
Angela
A
Errichiello
Monica
M
Saulino
Claudio
C
Auletta
Gennaro
G
Giannini
Pasquale
P
Donaudy
Francesca
F
Ciccodicola
Alfredo
A
Gasparini
Paolo
P
Franzè
Annamaria
A
Marciano
Elio
E
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
C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins