Journal article
Haplotype analysis of the USH1D locus and genotype-phenotype correlations
Clinical genetics, Vol.60(1), pp.58-62
Received 29 December 2000 Accepted 16 March 2001
07/2001
DOI: 10.1034/j.1399-0004.2001.600109.x
PMID: 11531971
Abstract
Usher syndrome (USH) is characterised by hearing impairment and progressive pigmentary retinopathy. USH can be divided into three subtypes based on the severity and progression of the major clinical findings. These subtypes are genetically heterogeneous, with at least six loci for USH1, three for USH2 and one for USH3. In the present study, five unrelated consanguineous families with USH1 were analysed for linkage to markers flanking the six USH1 loci. Two of these families, one Pakistani and one Turkish, demonstrated linkage to the USH1D locus. In another family, haplotype segregation was consistent with linkage to USH1C. The remaining families were not linked to any of the six USH1 loci, providing support for the existence of at least one additional USH1 locus. Analysis of these two new USH1D families allowed us to narrow the USH1D candidate region to a 7.3-cM interval with a telomeric flanking marker at D10S1752. Comparison of the affected haplotypes in our Pakistani family with the original Pakistani USH1D family yielded no evidence for a founder effect. The identification of two additional affected families suggests that the USH1D may be a more common form of USH1 than originally suspected. The USH1D (CDH23) gene has recently been cloned. Mutation analysis has shown two different CDH23 mutations in the two Pakistani USH1D families studied, which confirmed our finding that there was no evidence for a founder effect by haplotype analysis. The interesting correlations between genotype and phenotype in CDH23 are also summarised.
Details
- Title: Subtitle
- Haplotype analysis of the USH1D locus and genotype-phenotype correlations
- Creators
- X-Z Liu - Virginia Commonwealth UniversityS H Blanton - University of VirginiaM Bitner-Glindzicz - University College LondonA Pandya - Department of Human Genetics andB Landa - Virginia Commonwealth UniversityB MacArdle - University College LondonK Rajput - University College LondonS Bellman - University College LondonB T Webb - Virginia Commonwealth UniversityX Ping - Virginia Commonwealth UniversityRJH Smith - University of IowaW E Nance - Virginia Commonwealth University
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.60(1), pp.58-62
- Edition
- Received 29 December 2000 Accepted 16 March 2001
- Publisher
- Munksgaard International Publishers
- DOI
- 10.1034/j.1399-0004.2001.600109.x
- PMID
- 11531971
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Number of pages
- 5
- Language
- English
- Date published
- 07/2001
- 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
- 9984256926002771
Metrics
17 Record Views