Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

✍ Scribed by Petra Liskova; Stephen J. Tuft; Rhian Gwilliam; Neil D. Ebenezer; Katerina Jirsova; Quincy Prescott; Radka Martincova; Marike Pretorius; Neil Sinclair; David L. Boase; Margaret J. Jeffrey; Panos Deloukas; Alison J. Hardcastle; Martin Filipec; Shomi S. Bhattacharya

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 99 KB
• Volume: 28
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9495

✦ Synopsis

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.