Abstract
Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The haplotypes of four microsatellite markers surrounding TGFBI gene region were analyzed in 22 families. The data on association of genotype and phenotype suggest that the analysis of TGFBI gene mutations is important for differential diagnostics of corneal dystrophies.
Similar content being viewed by others
References
Weidle, G., Epitheliale und Stromale Hornhautdystrophien, Opthalmologie, 1996, vol. 43, pp. 754–767.
Jones, M. and Zimmerman, L., Histopathologic Differentiation of Granular, Macular and Lattice Dystrophies of the Cornea, Am. J. Ophthalmol., 1960, vol. 51, pp. 102–116.
Munier, L.F., Korvatska, E., Djemai, A., et al., Keratoepithelin Mutation in Four 5g31-Linked Corneal Dystrophies, Nat. Genet., 1997, vol. 15, pp. 247–251.
Kannabiran, C. and Klintworth, G.K., TGFBI Gene Mutations in Corneal Dystrophies, Hum. Mut., 2006, vol. 27, no. 7, pp. 615–625.
Le Baron, R.G., Bezverkov, K.I., Zimber, M.P., et al., Beta IG-H3, a Novel Secretory Protein Inducible by Transforming Growthfactor-Beta, Is Present in Normal Skin and Promotes the Adhesion and Spreading of Dermal Fibroblasts in vitro, J. Invest. Dermatol., 1995, vol. 104, pp. 844–849.
Kim, J.E., Kim, S.J., Lee, B.H., et al., Identification of Motifs for Cell Adhesion within the Repeated Domains of Transforming Growth Factor-Beta-Induced Gene, Betaig-h3, J. Biol. Chem., 2000, vol. 275, pp. 30907–30915.
Dighiero, P., Niel, F., Ellies, P., et al., Histologic Phenotype-Genotype Correlation of Corneal Dystrophies Associated with Eight Distinct Mutations in the TGFBI Gene, Ophthalmology, 2001, vol. 108, pp. 818–823.
Maschima, Y., Nakamura, Y., Noda, K., et al., A Novel Mutation at Codon 124 (R124L) in the BGIH3 Gene Associated with Superficial Variant of Granular Corneal Dystrophy, Arch. Ophthalmol., 1999, vol. 117, pp. 90–93.
Pampukha, V.M., Drozhyna, G.I., and Livshits, L.A., TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine, Opthalmologica, 2004, vol. 218, pp. 411–414.
Pampukha, V.M., Drozhyna, G.I., and Livshits, L.A., TGFBI Gene Mutation Analysis among Patients with Hereditary Corneal Stromal Dystrophy from Ukraine, Bopolimeri Klitina, 2008, vol. 24, no. 1, pp. 60–68.
Okada, M., Yamamoto, S., Watanabe, H., et al., Granular Corneal Dystrophy with Homozygous Mutations in the Kerato-Epithelin Gene, Am. J. Ophthal., 1998, vol. 126, pp. 169–176.
Mashima, Y., Konishi, M., and Nakamura, Y., Severe Form of Juvenile Corneal Stromal Dystrophy with Homozygous R124H Mutation in the Keratoepithelin Gene in Five Japanese Patients, Br. J. Ophtalmol., 1998, vol. 82, pp. 1280–1284.
Korvatska, E., Munier, F.L., Djemai, A., et al., Mutation Hot Spots in 5q31-Linked Corneal Dystrophies, Am. J. Hum. Genet., 1998, vol. 62, pp. 320–324.
Sambrook, J., Fritsch, E.F., and Maniatis, T., Molecular Cloning: A Laboratory Manual, Cold Spring Harbor: Cold Spring Harbor Lab., 1989.
Saiki, R.K., Gelfand, D.H., Stoffel, S., et al., Primer Directed Enzymatic Amplification of DNA Polymerase, Science, 1988, vol. 239, no. 8580, pp. 487–491.
Eifrig, D.E., Afshari, N.A., Buchanan, H.W., et al., Polymorphic Corneal Amyloidosis: a Disorder Due to a Novel Mutation in the Transforming Growth Factor Beta-Induced (BIGH3) Gene, Ophthalmology, 2004, vol. 111, pp. 1108–1114.
Brinkmann, B., Klintschar, M., Neuhuber, F., et al., Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat, Am. J. Hum. Genet., 1998, vol. 62, pp. 1408–1514.
Kravchenko, S.A., Livshits, L.A., Nature and Origin of Hereditary Mutations in Tandem Repeats of Human Genome, Biopolimeri i Klitina, 2007, vol. 23, no. 3, pp. 188–201.
Xu, X., Peng, M., Fang, Z., and Xu, X., The Direction of Microsatellite Mutations Is Dependent upon Allele Length, Nat. Genet., 2000, vol. 24, pp. 396–399.
Tereschchenko, F., Pampukha, V., and Lifshits, L., Predicted Tertiary Structure of Human Keratoepithelin Explains Effects of Mutations Leading to Corneal Dystrophies, Protein Peptide Lett., 2008 (in press).
Author information
Authors and Affiliations
Corresponding author
Additional information
Original Russian Text © V.N. Pampukha, S.A. Kravchenko, F. Tereshchenko, G.I. Drozhzhina, and L.A. Livshits, 2008, published in Genetika, 2008, Vol. 44, No. 10, pp. 1392–1396.
Rights and permissions
About this article
Cite this article
Pampukha, V.N., Kravchenko, S.A., Tereshchenko, F. et al. TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies. Russ J Genet 44, 1208–1211 (2008). https://doi.org/10.1134/S1022795408100104
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1134/S1022795408100104