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

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

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dc.contributor.author García-García, Gema es_ES
dc.contributor.author Aparisi Navarro, María José es_ES
dc.contributor.author Jaijo, Teresa es_ES
dc.contributor.author Rodrigo, Regina es_ES
dc.contributor.author Leon, Ana M es_ES
dc.contributor.author Ávila-Fernández, Almudena es_ES
dc.contributor.author Blanco-Kelly, Fiona es_ES
dc.contributor.author Bernal, Sara es_ES
dc.contributor.author Navarro, Rafael es_ES
dc.contributor.author Díaz Llopis, Manuel es_ES
dc.contributor.author Baiget, Montserrat es_ES
dc.contributor.author Ayuso, Carmen es_ES
dc.contributor.author Millán Salvador, José María es_ES
dc.contributor.author Aller Mañas, Elena es_ES
dc.date.accessioned 2015-06-22T09:51:17Z
dc.date.available 2015-06-22T09:51:17Z
dc.date.issued 2011 es_ES
dc.identifier.uri http://hdl.handle.net/10550/44674
dc.description.abstract BackgroundUsher 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.MethodsTo 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.ResultsAs 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.ConclusionsThis 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. es_ES
dc.source Orphanet Journal of Rare Diseases Vol. 6 pp. 65-65 es_ES
dc.subject Usher Syndrome es_ES
dc.subject USH2A es_ES
dc.subject Mutations es_ES
dc.subject Sequence Variants es_ES
dc.title Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.identifier.doi 10.1186/1750-1172-6-65 es_ES
dc.identifier.idgrec 075342 es_ES

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