title: [Molecular genetic study of Usher syndrome in Spain].
abstract: Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.
authors.affiliation: Unidad de Genetica, Hospital Universitario La Fe, Valencia.
authors.forename: T
authors.initials: T
authors.lastname: Jaijo
authors.forename: E
authors.initials: E
authors.lastname: Aller
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
authors.forename: C
authors.initials: C
authors.lastname: Nájera
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
mesh_terms: D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D052245:Usher Syndromes / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy