Literature DB >> 8825055

Evidence for a fourth locus in Usher syndrome type I.

S Gerber1, D Larget-Piet, J M Rozet, D Bonneau, M Mathieu, V Der Kaloustian, A Munnich, J Kaplan.   

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.

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Year:  1996        PMID： 8825055      PMCID： PMC1051818          DOI： 10.1136/jmg.33.1.77

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Genetic heterogeneity of Usher syndrome type II.

Authors:  S Pieke Dahl; W J Kimberling; M B Gorin; M D Weston; J M Furman; A Pikus; C Möller
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

2.  Genetic heterogeneity of Usher syndrome type 1 in French families.

Authors:  D Larget-Piet; S Gerber; D Bonneau; J M Rozet; S Marc; I Ghazi; J L Dufier; A David; P Bitoun; J Weissenbach
Journal:  Genomics       Date:  1994-05-01       Impact factor: 5.736

3.  Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

Authors:  M Leppert; L Baird; K L Anderson; B Otterud; J R Lupski; R A Lewis
Journal:  Nat Genet       Date:  1994-05       Impact factor: 38.330

4.  Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Authors:  V C Sheffield; R Carmi; A Kwitek-Black; T Rokhlina; D Nishimura; G M Duyk; K Elbedour; S L Sunden; E M Stone
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

5.  Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Authors:  D Weil; S Blanchard; J Kaplan; P Guilford; F Gibson; J Walsh; P Mburu; A Varela; J Levilliers; M D Weston
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

6.  Localization of Usher syndrome type II to chromosome 1q.

Authors:  W J Kimberling; M D Weston; C Möller; S L Davenport; Y Y Shugart; I A Priluck; A Martini; M Milani; R J Smith
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

7.  Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Authors:  R Carmi; T Rokhlina; A E Kwitek-Black; K Elbedour; D Nishimura; E M Stone; V C Sheffield
Journal:  Hum Mol Genet       Date:  1995-01       Impact factor: 6.150

8.  Localization of two genes for Usher syndrome type I to chromosome 11.

Authors:  R J Smith; E C Lee; W J Kimberling; S P Daiger; M Z Pelias; B J Keats; M Jay; A Bird; W Reardon; M Guest
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

9.  Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Authors:  W J Kimberling; C G Möller; S Davenport; I A Priluck; P H Beighton; J Greenberg; W Reardon; M D Weston; J B Kenyon; J A Grunkemeyer
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

10.  A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Authors:  J Kaplan; S Gerber; D Bonneau; J M Rozet; O Delrieu; M L Briard; H Dollfus; I Ghazi; J L Dufier; J Frézal
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736
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  1 in total

1.  Human ligands of the Notch receptor.

Authors:  G E Gray; R S Mann; E Mitsiadis; D Henrique; M L Carcangiu; A Banks; J Leiman; D Ward; D Ish-Horowitz; S Artavanis-Tsakonas
Journal:  Am J Pathol       Date:  1999-03       Impact factor: 4.307
  1 in total

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