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Background  Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the  USH2A  gene account for 74-90% of the USH2 cases.    Methods  To identify the genetic cause of the disease and determine the frequency of  USH2A  mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing.    Results  As a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and  in vitro  experiments, 37 variants (23 of them novel) were classified as pathogenic mutations.    Conclusions  This report provide a wide spectrum of  USH2A  mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in  USH2A  are responsible for 76.1% of USH2 disease in patients of Spanish origin.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations