title: Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
abstract: 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.
authors: Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, United Kingdom. p.liskova@ucl.ac.uk
authors: Petra
authors: P
authors: Liskova
authors: Stephen J
authors: SJ
authors: Tuft
authors: Rhian
authors: R
authors: Gwilliam
authors: Neil D
authors: ND
authors: Ebenezer
authors: Katerina
authors: K
authors: Jirsova
authors: Quincy
authors: Q
authors: Prescott
authors: Radka
authors: R
authors: Martincova
authors: Marike
authors: M
authors: Pretorius
authors: Neil
authors: N
authors: Sinclair
authors: David L
authors: DL
authors: Boase
authors: Margaret J
authors: MJ
authors: Jeffrey
authors: Panos
authors: P
authors: Deloukas
authors: Alison J
authors: AJ
authors: Hardcastle
authors: Martin
authors: M
authors: Filipec
authors: Shomi S
authors: SS
authors: Bhattacharya
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D024102:Collagen Type VIII / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D018153:Czech Republic; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D035583:Rare Diseases / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D006113:United Kingdom; D000071799:Zinc Finger E-box-Binding Homeobox 1
chemical_list: C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D005136:Eye Proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors; C491583:VSX1 protein, human; C486307:ZEB1 protein, human; D000071799:Zinc Finger E-box-Binding Homeobox 1