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


CONCLUSIONS
The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.
Liskova
Petra
P
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK. p.liskova@ucl.ac.uk
Klintworth
Gordon K
GK
Bowling
Brandy L
BL
Filipec
Martin
M
Jirsova
Katerina
K
Tuft
Stephen J
SJ
Bhattacharya
Shomi S
SS
Hardcastle
Alison J
AJ
Ebenezer
Neil D
ND
D000328:Adult; D000682:Amyloid / Q000378:metabolism; D002386:Cataract / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003315:Cornea / Q000378:metabolism / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D018153:Czech Republic; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006639:Histidine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011392:Proline; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D000682:Amyloid; D016326:Extracellular Matrix Proteins; D006639:Histidine; D011392:Proline; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein