Literature DB >> 1478677

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

W J Kimberling1, C G Möller, S Davenport, I A Priluck, P H Beighton, J Greenberg, W Reardon, M D Weston, J B Kenyon, J A Grunkemeyer.   

Abstract

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

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Year:  1992        PMID: 1478677     DOI: 10.1016/s0888-7543(05)80121-1

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  30 in total

1.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

2.  Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.

Authors:  P Kenna; F Mansergh; S Millington-Ward; A Erven; R Kumar-Singh; R Brennan; G J Farrar; P Humphries
Journal:  Br J Ophthalmol       Date:  1997-03       Impact factor: 4.638

3.  Usher syndrome in the city of Birmingham--prevalence and clinical classification.

Authors:  C I Hope; S Bundey; D Proops; A R Fielder
Journal:  Br J Ophthalmol       Date:  1997-01       Impact factor: 4.638

4.  USH1A: chronicle of a slow death.

Authors:  Sylvie Gerber; Dominique Bonneau; Brigitte Gilbert; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Josseline Kaplan
Journal:  Am J Hum Genet       Date:  2006-02       Impact factor: 11.025

5.  Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Authors:  M D Weston; P M Kelley; L D Overbeck; M Wagenaar; D J Orten; T Hasson; Z Y Chen; D Corey; M Mooseker; J Sumegi; C Cremers; C Moller; S G Jacobson; M B Gorin; W J Kimberling
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

6.  Evidence for a fourth locus in Usher syndrome type I.

Authors:  S Gerber; D Larget-Piet; J M Rozet; D Bonneau; M Mathieu; V Der Kaloustian; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

7.  Genetic heterogeneity of Usher syndrome type II in a Dutch population.

Authors:  S Pieke-Dahl; A van Aarem; A Dobin; C W Cremers; W J Kimberling
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

8.  Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

Authors:  P Gasparini; A De Fazio; A I Croce; P Stanziale; L Zelante
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

9.  Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Authors:  J R Heckenlively; B Chang; L C Erway; C Peng; N L Hawes; G S Hageman; T H Roderick
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205

10.  Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.

Authors:  J T Pang; S E Lloyd; C Wooding; B Farren; B Pottinger; B Harding; S E Leigh; M A Pook; F J Benham; G T Gillett; R T Taggart; R V Thakker
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

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