High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12642" target="_blank" >RIV/00216208:11110/12:12642 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1371/journal.pone.0045495" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0045495</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
Original language description
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on chromosome 20p12.1- 20q12 resulting into a conclusion that a shared ancestor in 14 families originating from one geographic location exists. The appearance of a disease-causing mutation was dated between 64?133 generations. The inferred ancestral locus carrying a PPCD1 disease-causing variant within the disease interval spans 60 Kb on 20p11.23, which contains a single known protein coding gene, ZNF133. However, direct sequence analysis of coding and untranslated exons did not reveal a potential pathogenic mutation. Prevalence of PPCD in the Czech Republic appears to be the highest worldwide.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Result continuities
Project
<a href="/en/project/GPP301%2F12%2FP591" target="_blank" >GPP301/12/P591: Identification and characterization of a novel gene causing corneal endothelial dystrophies</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PLoS One
ISSN
1932-6203
e-ISSN
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Volume of the periodical
7
Issue of the periodical within the volume
9
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
1-8
UT code for WoS article
000309556100051
EID of the result in the Scopus database
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