NAGIOS: RODERIC FUNCIONANDO

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

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

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

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.citation	Orphanet Journal of Rare Diseases Vol. 6 pp. 65-65	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.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	journal article	es_ES
dc.identifier.doi	10.1186/1750-1172-6-65	es_ES
dc.identifier.idgrec	075342	es_ES