Identification of three novel mutations in the MYO7A gene.
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
Cuevas
J M
JM
Departament de Genética, Universitat de València, València, Spain.
Espinós
C
C
Millán
J M
JM
Sánchez
F
F
Trujillo
M J
MJ
Ayuso
C
C
Beneyto
M
M
Nájera
C
C
D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D004398:Dyneins; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins