Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

Journal of Zhejiang University: Science B

Volumn 12, Issue 4, 2011, Pages 287-292

  Long, Yan ^a   Gu, Yang Shun ^a   Han, Wei ^a   Li, Xiu Yi ^a   Yu, Ping ^b   Qi, Ming ^b  

^a ZHEJIANG UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Corneal dystrophy; Genotype; Mutation; Phenotype; TGFBI gene

Indexed keywords

DNA; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; ARTICLE; AVELLINO CORNEA DYSTROPHY; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GRANULAR CORNEA DYSTROPHY TYPE I; HUMAN; LATTICE CORNEA DYSTROPHY TYPE I; LATTICE CORNEA DYSTROPHY TYPE IIIA; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSFORMING GROWTH FACTOR BETA1; YOUNG ADULT;

EID: 79954493163     PISSN: 16731581     EISSN: 18621783     Source Type: Journal    
DOI: 10.1631/jzus.B1000154     Document Type: Article

References (22)

1. Biswell, R., 1999. Cornea. In: Vaughan, D., Asbury, T., Riordan-Eva, P. (Eds.), General Ophthalmology, 15th Ed. Appleton & Lange, Stamford, p.119-141.
2. S. Chakravarthi C. Kannabiran M.S. Sridhar G.K. Vemuganti 2005 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients Invest. Ophthalmol. Vis. Sci. 46 1 121 125 15623763 10.1167/iovs.04-0440 (Pubitemid 40041187)
3. L.L. Chen P. Yu Y.S. Gu Y.H. Yang X.Y. Yan Z. Ge N. Lv L. Guo 2005 Granular corneal dystrophy with Arg555Trp mutation in the BIGH3 gene Chin. Ophthal. Res. 23 1 60 62 1:CAS:528:DC%2BD2MXhtFemsr%2FM (Pubitemid 40314292)
4. N.J. Clout E. Hohenester 2003 A model of FAS1 domain 4 of the corneal protein β(ig)-h3 gives a clearer view on corneal dystrophies Mol. Vis. 9 11 440 448 14502125 1:CAS:528:DC%2BD3sXpt1Wktr0%3D (Pubitemid 38097612)
5. W.L. Dong L.H. Zou Z.Q. Pang T. Jin J. Yu 2005 Molecular-genetic analysis of Chinese patients with lattice corneal dystrophy in the BIGH3 gene Chin. J. Ophthalmol. 41 6 523 526 1:CAS:528:DC%2BD28XjsVKktr0%3D
6. C. Kannabiran G.K. Klintworth 2006 TGFBI gene mutations in corneal dystrophies Hum. Mutat. 27 7 615 625 16683255 10.1002/humu.20334 1:CAS:528:DC%2BD28XntlyrtL0%3D
7. J.E. Kim E.H. Kim E.H. Han R.W. Park I.H. Park S.H. Jun J.C. Kim M.F. Young I.S. Kim 2000 A TGF-β-inducible cell adhesion molecule, β(ig)-h3, is downregulated in melorheostosis and involved in osteogenesis J. Cell. Biochem. 77 2 169 178 10723084 10.1002/(SICI)1097-4644(20000501)77: 2<169::AID-JCB1>3.0.CO;2-L 1:CAS:528:DC%2BD3cXit1GktLk%3D (Pubitemid 30176647)
8. Kim, J.E., Park, R.W., Cboi, J.Y., Bae, Y.C., Kim, K.S., Joo, C.K., Kim, I.S., 2002. Molecular properties of wild-type and mutant BIGH3 proteins. Invest. Ophthalmol. Vis. Sci., 43 (3):656-661.
9. G.K. Klintworth 1999 Advances in the molecular genetics of corneal dystrophies Am. J. Ophthalmol. 128 6 747 754 10612512 10.1016/S0002-9394(99) 00358-X 1:CAS:528:DC%2BD3cXivF2itA%3D%3D (Pubitemid 30001771)
10. G.K. Klintworth 2003 The molecular genetics of corneal dystrophies-current status Front. Biosci. 8 1-3 d687 d713 12700042 10.2741/1018 1:CAS:528:DC%2BD3sXjvVWktr4%3D
11. I.E. Kochairi I. Letovanec S. Uffer F.L. Munier P. Chaubert D.F. Schorderet 2006 Systemic investigation of kerato-epithelin deposits in TGFBI/BIGH3-related corneal dystrophy Mol. Vis. 12 10 461 466 16710170
12. Korvatska, E., Munier, F.L., Djemai, A., Wang, M.X., Frueh, B., Chiou, A.G.Y., Uffer, S., Ballestrazzi, E., Braunstein, R.E., Forster, R.K., et al., 1998. Mutation hot spots in 5q31-linked corneal dystrophies. Am. J. Hum. Genet., 62 (2):320-324. [doi:10.1086/301720] (Pubitemid 28110774)
13. Y. Mashima M. Konishi Y. Nakamura Y. Imamura M. Yamada T. Ogata J. Kudoh N. Shimizu 1998 Severe form of juvenile corneal dystrophy with homozygous R124H mutation in the kerato-epithelin gene in five Japanese patients Br. J. Ophthalmol. 82 11 1280 1284 9924333 10.1136/bjo.82.11.1280 1:STN:280: DyaK1M7itlCjug%3D%3D (Pubitemid 28524122)
14. F.L. Munier E. Korvatska A. Djema D. le Paslier L. Zografos G. Pescia D.F. Schorderet 1997 Keratoepithelin mutations in four 5q31-linked corneal dystrophies Nat. Genet. 15 3 247 251 9054935 10.1038/ng0397-247 1:CAS:528:DyaK2sXhsVGmsbg%3D (Pubitemid 27098716)
15. F.L. Munier B.E. Frueh P. Othenin-Girard S. Uffer P. Cousin M.X. Wang E. Héon G.C. Black M.A. Blasi E. Ballestrazzi, et al. 2002 BIGH3 mutation spectrum in corneal dystrophies Invest. Ophthalmol. Vis. Sci. 43 4 949 954 11923233 (Pubitemid 34258260)
16. M. Okada S. Yamamoto M. Tsujikawa H. Watanabe Y. Inoue N. Maeda Y. Shimomura K. Nishida A.J. Quantock S. Kinoshita, et al. 1998 Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy Am. J. Ophthalmol. 26 4 535 542 10.1016/S0002-9394(98)00135-4 (Pubitemid 28475917)
17. M. Okada S. Yamamoto H. Watanabe Y. Inoue M. Tsujikawa N. Maeda Y. Shimomura K. Nishida S. Kinoshita Y. Tano 1998 Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene Am. J. Ophthalmol. 126 2 169 176 9727509 10.1016/S0002-9394(98)00075-0 1:STN:280:DyaK1czpsVCqsA%3D%3D (Pubitemid 28397088)
18. Schmitt-Bernard, C.F., Chavanieu, A., Herrada, G., Subra, G., Arnaud, B., Demaille, J.G., Calas, B., Argiles, A., 2002. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro: implications in the BIGH3-linked corneal dystrophies. Eur. J. Biochem., 269 (21):5149-5156. [doi:10.1046/j.1432-1033.2002.03205.x] (Pubitemid 35340822)
19. N. Thapa B.H. Lee I.S. Kim 2007 TGFBIp/βig-h3 protein: a versatile matrix molecular induced by TGF-β Int. J. Biochem. Cell Biol. 39 12 2183 2194 17659994 10.1016/j.biocel.2007.06.004 1:CAS:528:DC%2BD2sXhtFWgsLzN (Pubitemid 47484277)
20. P. Yu Y.S. Gu Y.H. Yang X.Y. Yan L.L. Chen Z. Ge M. Qi J.M. Si L. Guo 2006 A clinical and moleculargenetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene J. Genet. 85 1 73 76 16809844 10.1007/BF02728974 1:CAS:528:DC%2BD28XmvVKmsbo%3D
21. P. Yu Y.S. Gu F. Jin R.R. Hu L.L. Chen X.Y. Yan Y.H. Yang M. Qi 2008 p.Ala546>Asp and Arg555>Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I Genetic Testing 12 3 421 426 18752451 10.1089/gte.2008.0005 1:CAS:528:DC%2BD1cXhtVCrsLjI
22. J.C. Zenteno A. Ramirez-Miranda C. Santacruz-Valdes R. Suarez-Sanchez 2006 Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy Mol. Vis. 12 10 331 335 16636649 1:CAS:528: DC%2BD28XntVeltr8%3D