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Article

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

Orphanet journal of rare diseases - 17 Oct 2011

Garcia-Garcia Gema, Aparisi Maria J, Jaijo Teresa, Rodrigo Regina, Leon Ana M, Avila-Fernandez Almudena, Blanco-Kelly Fiona, Bernal Sara, Navarro Rafael, Diaz-Llopis Manuel, Baiget Montserrat, Ayuso Carmen, Millan Jose M, Aller Elena

Abstract excerpt

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,...

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Identifiers

PMID: 22004887
DOI: 10.1186/1750-1172-6-65
PMCID: PMC3207874

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