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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy
Author(s) -
Liskova Petra,
Tuft Stephen J.,
Gwilliam Rhian,
Ebenezer Neil D.,
Jirsova Katerina,
Prescott Quincy,
Martincova Radka,
Pretorius Marike,
Sinclair Neil,
Boase David L.,
Jeffrey Margaret J.,
Deloukas Panos,
Hardcastle Alison J.,
Filipec Martin,
Bhattacharya Shomi S.
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9495
Subject(s) - biology , czech , corneal dystrophy , genetics , gene , dystrophy , cornea , neuroscience , philosophy , linguistics
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. © 2007 Wiley‐Liss, Inc.