Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene
Language English Country United States Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
Wellcome Trust - United Kingdom
PubMed
16303937
DOI
10.1167/iovs.05-0269
PII: 46/12/4480
Knihovny.cz E-resources
- MeSH
- Corneal Dystrophies, Hereditary epidemiology genetics pathology MeSH
- Descemet Membrane pathology MeSH
- Genetic Markers MeSH
- Homeodomain Proteins genetics MeSH
- Humans MeSH
- Chromosomes, Human, Pair 20 genetics MeSH
- Lod Score MeSH
- Quantitative Trait Loci MeSH
- Chromosome Mapping * MeSH
- Eye Proteins genetics MeSH
- Pedigree MeSH
- Endothelium, Corneal pathology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic epidemiology MeSH
- Names of Substances
- Genetic Markers MeSH
- Homeodomain Proteins MeSH
- Eye Proteins MeSH
- VSX1 protein, human MeSH Browser
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.
References provided by Crossref.org
CUGC for posterior polymorphous corneal dystrophy (PPCD)
