Evidence for a fourth locus in Usher syndrome type I

J Med Genet. 1996 Jan;33(1):77-9. doi: 10.1136/jmg.33.1.77.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping*
  • Female
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Pedigree
  • Retinitis Pigmentosa / congenital
  • Retinitis Pigmentosa / genetics*
  • Speech Disorders / genetics*
  • Syndrome
  • Vestibular Diseases / genetics*