title: Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
abstract: The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, one can conclude that USH1G has a minor involvement in Usher syndrome pathogenesis.
authors: Unidad de Genética, Hospital Universitario La Fe, Valencia, Spain.
authors: Elena
authors: E
authors: Aller
authors: Teresa
authors: T
authors: Jaijo
authors: Magdalena
authors: M
authors: Beneyto
authors: Carmen
authors: C
authors: Nájera
authors: Constantino
authors: C
authors: Morera
authors: Herminio
authors: H
authors: Pérez-Garrigues
authors: Carmen
authors: C
authors: Ayuso
authors: Jose
authors: J
authors: Millán
mesh_terms: D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013030:Spain; D052245:Usher Syndromes / Q000145:classification / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; C477452:USH1G protein, human