Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.
In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USHIB mutations in these families could be located in the unscreened regions of the gene.
Departamento de Genética, Fac. C.C. Biológicas, Universidad de Valencia, Spain.
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C
Espinós
J M
JM
Millán
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F
Sánchez
M
M
Beneyto
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Nájera
D000328:Adult; D004398:Dyneins; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins