Molecular genetics of Chinese families with TGFBI corneal dystrophies

Molecular Vision

Volumn 17, Issue , 2011, Pages 380-387

  Zhang, Ting ^a   Yan, Naihong ^a   Yu, Wenhan ^a   Liu, Yun ^b   Liu, Guo ^a   Wu, Xiaomei ^a   Lian, Jinxian ^a   Liu, Xuyang ^a  

^a SICHUAN UNIVERSITY   (China)

^b KAISER PERMANENTE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; TRYPTOPHAN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; CORNEA; CORNEA DYSTROPHY; CORNEA OPACITY; CORNEA STROMA; EXON; EYE EXAMINATION; FEMALE; GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GRANULAR CORNEAL DYSTROPHY TYPE 1; GRANULAR CORNEAL DYSTROPHY TYPE 2; HETEROZYGOSITY; HUMAN; IN VIVO STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP; TRANSFORMING GROWTH FACTOR BETA INDUCED GENE; VISUAL ACUITY; VISUAL DISORDER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MODELS, GENETIC; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA1;

EID: 79952157807     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Korvatska E, Munier FL, Chaubert P, Wang MX, Mashima Y, Yamada M, Uffer S, Zografos L, Schorderet DF. On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies. Invest Ophthalmol Vis Sci 1999; 40:2213-9. [PMID: 10476785]
2. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of beta igh3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol 1992; 11:511-22. [PMID: 1388724]
3. Mannis MJ, Desouza LB, Gross RH. The stromal dystrophies in:Krachmer JH, Holland EJ, Mannis MJ, editors. Diseases of Cornea. St. Louis: Mosby, 1997;1043-62.
4. Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998; 62:320-4. [PMID: 9463327]
5. Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat 2006; 27:615-25. [PMID: 16683255]
6. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 1994; 160:511-21. [PMID: 8077289]
7. El Kochairi I, Letovanec I, Uffer S, Munier FL, Chaubert P, Schorderet DF. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. Mol Vis 2006; 12:461-6. [PMID: 16710170]
8. Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK. The IC3D classification of the corneal dystrophies. Cornea 2008; 27:S1-83. [PMID: 19337156]
9. Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997; 15:247-51. [PMID: 9054935]
10. Weidle EG, Lisch W. Various forms of opacities of granular corneal dystrophy. Klin Monatsbl Augenheilkd 1984; 185:167-73. [PMID: 6333548]
11. Akiya S, Takahashi H, Nakano N, Hirose N, Tokuda Y. Granular-lattice (Avellino) corneal dystrophy. Ophthalmologica 1999; 213:58-62. [PMID: 9838259]
12. Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P. Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. Mol Vis 2009; 15:70-5. [PMID: 19145249]
13. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis 2009; 4:7. [PMID: 19236704]
14. Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol 2002; 46:673-4. [PMID: 12543196]
15. Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol 1999; 128:687-91. [PMID: 10612503]
16. Ren Z, Lin PY, Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet 2002; 110:568-77. [PMID: 12107443]
17. Alavi A, Elahi E, Tehrani MH, Amoli FA, Javadi MA, Rafati N, Chiani M, Banihosseini SS, Bayat B, Kalhor R, Amini SS. Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients. Invest Ophthalmol Vis Sci 2007; 48:4490-7. [PMID: 17898270]
18. Poulaki V, Colby K. Genetics of anterior and stromal corneal dystrophies. Semin Ophthalmol 2008; 23:9-17. [PMID: 18214787]
19. Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, Fishbaugh JA, Daley TE, Brian M, Sucheski BM, Sheffield VC. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994; 6:47-51. [PMID: 8136834]
20. Skonier J, Bennett K, Rothwell V, Kosowski S, Plowman G, Wallace P, Edelhoff S, Disteche C, Neubauer M, Marquardt H, Rogers J, Purchio AF. beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol 1994; 13:571-84. [PMID: 8024701]
21. Mashima Y, Imamura Y, Konishi M, Nagasawa A, Yamada M, Oguchi Y, Kudoh J, Shimizu N. Homogeneity of keratoepithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet 1997; 61:1448-50. [PMID: 9399907]
22. Kocak-Altintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S. BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. Cornea 2001; 20:64-8. [PMID: 11189007]
23. Kobayashi A, Fujiki K, Fujimaki T, Murakami A, Sugiyama K. In vivo laser confocal microscopic findings of corneal stromal dystrophies. Arch Ophthalmol 2007; 125:1168-73. [PMID: 17846354]
24. Ma K, Liu G, Yang Y, Yu M, Sui R, Yu W, Chen X, Deng Y, Yan N, Cao G, Liu X. TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy. Mol Vis 2010; 16:556-61. [PMID: 20360992]
25. Schmitt-Bernard CF, Chavanieu A, Herrada G, Subra G, Arnaud B, Demaille JG, Calas B, Argiles A. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro. Eur J Biochem 2002; 269:5149-56. [PMID: 12392546]
26. Kim BY, Olzmann JA, Choi SI, Ahn SY, Kim TI, Cho HS, Suh H, Kim EK. Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. J Biol Chem 2009; 284:19580-91. [PMID: 19478074]
27. Clout NJ, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis 2003; 9:440-8. [PMID: 14502125]
28. Korvatska E, Henry H, Mashima Y, Yamada M, Bachmann C, Munier FL, Schorderet DF. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from keratoepithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem 2000; 275:11465-9. [PMID: 10753964]