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Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6.

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Author information

1
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK. p.liskova@ucl.ac.uk

Abstract

AIMS:

To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.

METHODS:

The coding sequence of the TGFBI gene 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-Bucklers 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.

PMID:
18259096
DOI:
10.1159/000115325
[Indexed for MEDLINE]
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