Home LiteratureArticle Details
PMID: 8825055 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Evidence for a fourth locus in Usher syndrome type I.

Journal of medical genetics ·Vol. 33 ·No. 1 ·1996-01-00 ·Pages 77-9

Gerber S, Larget-Piet D, Rozet JM, Bonneau D, Mathieu M, Der Kaloustian V, Munnich A, Kaplan J

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.

MeSH Terms
Abnormalities, Multiple/genetics Chromosome Mapping Female Hearing Loss, Sensorineural/congenital,genetics Humans Male Pedigree Retinitis Pigmentosa/congenital,genetics Speech Disorders/genetics Syndrome Vestibular Diseases/genetics
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Gerber S
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.
Larget-Piet D
Rozet J M
Bonneau D
Mathieu M
Der Kaloustian V
Munnich A
Kaplan J
References (11)
11 references, click to expand
  1. Localization of Usher syndrome type II to chromosome 1q.
    Genomics. 1990 Jun;7(2):245-9 PMID: 2347588
  2. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
    Genomics. 1992 Dec;14(4):979-87 PMID: 1478676
  3. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
    Genomics. 1992 Dec;14(4):988-94 PMID: 1478677
  4. Localization of two genes for Usher syndrome type I to chromosome 11.
    Genomics. 1992 Dec;14(4):995-1002 PMID: 1478678
  5. Genetic heterogeneity of Usher syndrome type II.
    J Med Genet. 1993 Oct;30(10):843-8 PMID: 7901420
  6. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
    Hum Mol Genet. 1995 Jan;4(1):9-13 PMID: 7711739
  7. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
    Nat Genet. 1994 May;7(1):108-12 PMID: 8075632
  8. Genetic heterogeneity of Usher syndrome type 1 in French families.
    Genomics. 1994 May 1;21(1):138-43 PMID: 8088781
  9. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
    Hum Mol Genet. 1994 Aug;3(8):1331-5 PMID: 7987310
  10. Defective myosin VIIA gene responsible for Usher syndrome type 1B.
    Nature. 1995 Mar 2;374(6517):60-1 PMID: 7870171
  11. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
    Nat Genet. 1993 Dec;5(4):392-6 PMID: 8298649
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.33.1.77
Published
1996-01-00
Pages
77-9
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051818
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.33.1.77 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2