title: TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.
abstract: In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy. The R124C mutation was detected in 1 unaffected 10-year-old individual and in 24 patients from 8 families with lattice corneal dystrophy. As far as the R124C mutation detected in 1 patient with clinically diagnosed Reis-Bucklers corneal dystrophy is concerned, we concluded that this patient was misdiagnosed. The obtained results show that TGFBI gene mutation analysis is important as well for the early differential diagnosis of corneal dystrophies and genetic consulting in high-risk families.
authors.affiliation: Institute of Molecular Biology and Genetics, National Academy of Science of Ukraine, Kiev, Ukraine.
authors.forename: V M
authors.initials: VM
authors.lastname: Pampukha
authors.forename: G I
authors.initials: GI
authors.lastname: Drozhyna
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
mesh_terms: D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D003319:Corneal Stroma / Q000473:pathology; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014455:Ukraine / Q000453:epidemiology; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein