Premium
Mutations in Myosin VIIA ( MYO7A ) and Usherin ( USH2A ) in Spanish patients with usher syndrome types I and II, respectively
Author(s) -
Nájera Carmen,
Beneyto Magdalena,
Blanca José,
Aller Elena,
Fontcuberta Ana,
Millán José María,
Ayuso Carmen
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9042
Subject(s) - usher syndrome , biology , retinitis pigmentosa , genetics , allele , mutation , gene , population , medicine , environmental health
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. © 2002 Wiley‐Liss, Inc.