Document Detail


Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
MedLine Citation:
PMID:  16303937     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet's membrane. In the Czech Republic, PPCD is one of the most prevalent corneal dystrophies. The purpose of this study was to determine the chromosomal locus of PPCD in two large Czech families, by using linkage analysis. METHODS: Linkage analysis was performed on 52 members of two Czech families with PPCD and polymorphic microsatellite markers and lod scores were calculated. The candidate gene VSX1 was also screened for mutations. RESULTS: Significant lod scores were obtained with microsatellite markers on chromosome 20. Linkage analysis delineated the Czech PPCD locus to a 2.7-cM locus on chromosome 20, region p11.2, between flanking markers D20S48 and D20S139, which excluded VSX1 as the disease-causing gene in both families. In addition, the exclusion of VSX1 was confirmed by sequence analysis. CONCLUSIONS: This study reports the localization of PPCD in patients of Czech origin to chromosome 20 at p11.2. Linkage data and sequence analysis exclude VSX1 as causative of PPCD in two Czech families. This refined locus for PPCD overlaps the congenital hereditary endothelial dystrophy (CHED1) disease interval, and it is possible that these corneal dystrophies are allelic.
Authors:
Rhian Gwilliam; Petra Liskova; Martin Filipec; Stanislav Kmoch; Katerina Jirsova; Elizabeth J Huckle; Catherine L Stables; Shomi S Bhattacharya; Alison J Hardcastle; Panos Deloukas; Neil D Ebenezer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  46     ISSN:  0146-0404     ISO Abbreviation:  Invest. Ophthalmol. Vis. Sci.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-11-23     Completed Date:  2006-01-11     Revised Date:  2007-08-13    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4480-4     Citation Subset:  IM    
Affiliation:
Wellcome Trust Sanger Institute, Hinxton, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping*
Chromosomes, Human, Pair 20 / genetics*
Corneal Dystrophies, Hereditary / epidemiology,  genetics*,  pathology
Czech Republic / epidemiology
Descemet Membrane / pathology*
Endothelium, Corneal / pathology*
Eye Proteins / genetics*
Female
Genetic Markers
Homeodomain Proteins / genetics*
Humans
Lod Score
Male
Pedigree
Quantitative Trait Loci
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Eye Proteins; 0/Genetic Markers; 0/Homeodomain Proteins; 0/VSX1 protein, human

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