title: Evidence for a fourth locus in Usher syndrome type I.
abstract: Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively). The genetic heterogeneity of US1 has been confirmed in a previous study by linkage analysis of 20 French pedigrees. Here, we report the genetic exclusion of the three previously reported loci in two large multiplex families of Moroccan and Pakistani origin, suggesting the existence of at least a fourth locus in Usher syndrome type I.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: D
authors.initials: D
authors.lastname: Larget-Piet
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: V
authors.initials: V
authors.lastname: Der Kaloustian
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000151:congenital / Q000235:genetics*; D013064:Speech Disorders / Q000235:genetics*; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics*