Evidence for a fourth locus in Usher syndrome type I
- PMID: 8825055
- PMCID: PMC1051818
- DOI: 10.1136/jmg.33.1.77
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.
Similar articles
-
Genetic heterogeneity of Usher syndrome type 1 in French families.Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235. Genomics. 1994. PMID: 8088781
-
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.Hum Mol Genet. 1997 Jan;6(1):27-31. doi: 10.1093/hmg/6.1.27. Hum Mol Genet. 1997. PMID: 9002666
-
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.Eur J Hum Genet. 1999 Apr;7(3):363-7. doi: 10.1038/sj.ejhg.5200307. Eur J Hum Genet. 1999. PMID: 10234513
-
[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].Ned Tijdschr Geneeskd. 2002 Dec 7;146(49):2354-8. Ned Tijdschr Geneeskd. 2002. PMID: 12510399 Review. Dutch.
-
Gene mapping of the Usher syndromes.Otolaryngol Clin North Am. 1992 Oct;25(5):923-34. Otolaryngol Clin North Am. 1992. PMID: 1408196 Review.
Cited by
-
Human ligands of the Notch receptor.Am J Pathol. 1999 Mar;154(3):785-94. doi: 10.1016/S0002-9440(10)65325-4. Am J Pathol. 1999. PMID: 10079256 Free PMC article.
References
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical