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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2007-5-7
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pubmed:abstractText |
We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within exon 7 in the ZEB1 gene located at 10p11.2. We also genotyped the Czech patients to test for a founder haplotype and lack of disease segregation with the 20p11.2 locus we previously described. Although a systematic clinical examination was not performed, our investigation does not support an association between ZEB1 changes and self reported non-ocular anomalies. In the remaining six families no disease causing mutations were identified thereby indicating that as yet unidentified gene(s) are likely to be responsible for PPCD.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-10612815,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-11689488,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-11978762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-14158580,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-16252232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-16303937,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-16384943,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-2055029,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-302697,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-3877658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-3914130,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-6334374,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-6966136,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-7795607,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-9418848,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17437275-9450896
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:BhattacharyaShomi SSS,
pubmed-author:BoaseDavid LDL,
pubmed-author:DeloukasPanosP,
pubmed-author:EbenezerNeil DND,
pubmed-author:FilipecMartinM,
pubmed-author:GwilliamRhianR,
pubmed-author:HardcastleAlison JAJ,
pubmed-author:JeffreyMargaret JMJ,
pubmed-author:JirsovaKaterinaK,
pubmed-author:LiskovaPetraP,
pubmed-author:MartincovaRadkaR,
pubmed-author:PrescottQuincyQ,
pubmed-author:PretoriusMarikeM,
pubmed-author:SinclairNeilN,
pubmed-author:TuftStephen JSJ
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pubmed:copyrightInfo |
(c) 2007 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
638
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17437275-Adolescent,
pubmed-meshheading:17437275-Adult,
pubmed-meshheading:17437275-Aged,
pubmed-meshheading:17437275-Collagen Type VIII,
pubmed-meshheading:17437275-Corneal Dystrophies, Hereditary,
pubmed-meshheading:17437275-Czech Republic,
pubmed-meshheading:17437275-DNA Mutational Analysis,
pubmed-meshheading:17437275-Eye Proteins,
pubmed-meshheading:17437275-Female,
pubmed-meshheading:17437275-Great Britain,
pubmed-meshheading:17437275-Homeodomain Proteins,
pubmed-meshheading:17437275-Humans,
pubmed-meshheading:17437275-Male,
pubmed-meshheading:17437275-Middle Aged,
pubmed-meshheading:17437275-Mutation,
pubmed-meshheading:17437275-Pedigree,
pubmed-meshheading:17437275-Rare Diseases,
pubmed-meshheading:17437275-Transcription Factors
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pubmed:year |
2007
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pubmed:articleTitle |
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
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pubmed:affiliation |
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, United Kingdom. p.liskova@ucl.ac.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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