title: Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
abstract: Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of USH2A gene was carried out in 32 unrelated patients in which both disease-causing mutations could not be found after the screening of the first 21 exons of the USH2A gene. On analysing the new 52 exons, fourteen novel mutations were identified in 14 out of the 32 cases studied, including 7 missense, 5 frameshift, 1 duplication and a putative splice-site mutation.
authors.affiliation: Unit of Genetics, Hospital La Fe, Avda Campanar, 21, 46009 Valencia, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Aller
authors.forename: T
authors.initials: T
authors.lastname: Jaijo
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
authors.forename: C
authors.initials: C
authors.lastname: Nájera
authors.forename: S
authors.initials: S
authors.lastname: Oltra
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: F
authors.initials: F
authors.lastname: Moreno
authors.forename: C
authors.initials: C
authors.lastname: Vilela
authors.forename: D
authors.initials: D
authors.lastname: Collado
authors.forename: H
authors.initials: H
authors.lastname: Pérez-Garrigues
authors.forename: A
authors.initials: A
authors.lastname: Navea
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics; D013030:Spain; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: D016326:Extracellular Matrix Proteins; D020033:Protein Isoforms; C112735:USH2A protein, human