Journal article
Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
American journal of human genetics, Vol.67(6), pp.1569-1574
2000
DOI: 10.1086/316889
PMCID: PMC1287932
PMID: 11060213
Abstract
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The
MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis.
MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for
MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG χ
2
(1) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
Details
- Title: Subtitle
- Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
- Creators
- Lisa M Astuto - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, OmahaMichael D Weston - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, OmahaCarol A Carney - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, OmahaDenise M Hoover - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, OmahaCor W.R.J Cremers - Department of Otorhinolaryngology, University Hospital, Nijmegen, the NetherlandsMariette Wagenaar - Department of Otorhinolaryngology, University Hospital, Nijmegen, the NetherlandsClaes Moller - Department of Audiology, Sahlgrenska University Hospital, Gothenburg, SwedenRichard J.H Smith - Department of Otolaryngology, University of Iowa, Iowa CitySandra Pieke-Dahl - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, OmahaJacquie Greenberg - Department of Human Genetics, University of Cape Town Medical School, Cape TownRaj Ramesar - Department of Human Genetics, University of Cape Town Medical School, Cape TownSamuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, PhiladelphiaCarmen Ayuso - Fundacion Jimenez Diaz, Madrid, SpainJohn R Heckenlively - Jules Stein Eye Institute, University of California at Los Angeles School of Medicine, Los AngelesMarta Tamayo - Instituto de Genetica Humana, Universidad Javeriana, Bogota, ColombiaMichael B Gorin - Departments of Ophthalmology and Human Genetics, University of Pittsburgh, PittsburghWillie Reardon - Institute of Child Health, University of London, LondonWilliam J Kimberling - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.67(6), pp.1569-1574
- DOI
- 10.1086/316889
- PMID
- 11060213
- PMCID
- PMC1287932
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2000
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006310902771
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