Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are MYO7A, which causes USH1B, and usherin, which causes USH2A. We carried out a mutation analysis of these two genes in the Spanish population. Analysis of the MYO7A gene in patients from 30 USH1 families and sporadic cases identified 32% of disease alleles, with mutation Q821X being the most frequent. Most of the remaining variants are private mutations. With regard to USH2, mutation 2299delG was detected in 25% of the Spanish patients. Altogether the mutations detected in USH2A families account for 23% of the disease alleles.
Nájera
Carmen
C
Departamento de Genética, Facultad de Ciencias Biológicas, Universidad de Valencia, Valencia, Spain. Carmen.Najera@uv.es
Beneyto
Magdalena
M
Blanca
José
J
Aller
Elena
E
Fontcuberta
Ana
A
Millán
José María
JM
Ayuso
Carmen
C
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004398:Dyneins; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*; D013030:Spain; D013577:Syndrome
D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; C112735:USH2A protein, human; D004247:DNA; D009218:Myosins; D004398:Dyneins