1. Phenotype Associated with the H626P Mutation and Other Changes in the TGFBIGene in Czech Families.
- Author
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Petra Liskova, Gordon K. Klintworth, Brandy L. Bowling, Martin Filipec, Katerina Jirsova, Stephen J. Tuft, Shomi S. Bhattacharya, Alison J. Hardcastle, and Neil D. Ebenezer
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GENETIC mutation ,CORNEA diseases ,VISION disorders ,CORNEA surgery ,GENOTYPE-environment interaction ,DYSTROPHY - Abstract
AbstractAims:To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI)gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods:The coding sequence of the TGFBIgene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. Results:A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bücklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified. Conclusion:The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2008
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