Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

Molecular Vision

Volumn 17, Issue , 2011, Pages 1192-11202

  Niel Butschi, Florence ^a   Kantelip, Bernadette ^b   Iwaszkiewicz, Justyna ^c   Zoete, Vincent ^c   Boimard, Mathieu ^d   Delpech, Marc ^a,d   Bourges, Jean Louis ^e   Renard, Gilles ^e   D'Hermies, François ^e   Pisella, Pierre Jean ^f   Hamel, Christian ^g   Delbosc, Bernard ^b   Valleix, Sophie ^a,d  

^a INSERM   (France)

^b UNIVERSITY HOSPITAL OF BESANÇON   (France)

^c SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^d Assistance Publique Hôpitaux de Paris ^*  (France)

^e HÔTEL DIEU   (France)

^f Hopital de Tours   (France)

^g Centre des affections sensorielles rares   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; GLYCINE; GROWTH FACTOR; KERATOEPITHELIN; LEUCINE; METHIONINE; PROLINE; UNCLASSIFIED DRUG; VALINE;

ADULT; AGED; ALGERIA; ARTICLE; BOWMAN MEMBRANE; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; CORNEA DYSTROPHY; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR MODEL; PREDICTION; PRIORITY JOURNAL; PROTEIN FOLDING; TGFB1 GENE;

ADULT; AGED, 80 AND OVER; ALGERIA; ALLELES; AMINO ACID SEQUENCE; BOWMAN MEMBRANE; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRANCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA;

EID: 79957526819     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. 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; 160:511-521. [PMID: 8077289]
2. 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; 15:247-251. [PMID: 9054935]
3. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis 2009; 4:7. [PMID: 19236704]
4. 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; 27:81-83. [PMID: 19337156]
5. Gruenauer-Kloevekorn C, Braeutigam S, Froster UG, Duncker GI. Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings. Graefes Arch Clin Exp Ophthalmol 2009; 247:93-99. [PMID: 18777038]
6. Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat 2006; 27:615-625. [PMID: 16683255]
7. Clout NJ, Tisi D, Hohenester E. Novel fold revealed by the structure of a FAS1 domain pair from the insect cell adhesion molecule fasciclin I. Structure 2003; 11:197-203. [PMID: 12575939]
8. LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J, Purchio AF. Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. J Invest Dermatol 1995; 104:844-849. [PMID: 7738366]
9. Thapa N, Lee BH, Kim IS. TGFBIp/betaig-h3 protein: a versatile matrix molecule induced by TGF-beta. Int J Biochem Cell Biol 2007; 39:2183-2194. [PMID: 17659994]
10. Zinn K, McAllister L, Goodman CS. Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila. Cell 1988; 53:577-587. [PMID: 3370670]
11. 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; 9:440-448. [PMID: 14502125]
12. Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat 2006; 27:553-557. 3PMID:16652336]
13. Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C. TGFBI (BIGH3) gene mutations in German families- two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol 2009; 93:932-937. [PMID: 19001012]
14. Melo F, Feytmans E. Novel knowledge-based mean force potential at atomic level. J Mol Biol 1997; 267:207-222. [PMID: 9096219]
15. Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L. The FoldX web server: an online force field. Nucleic Acids Res 2005; 33:W382-388. [PMID: 15980494]
16. Brooks BR, Bruccoleri RE, Olafson BD, States DJ. Swaminathan aMK. CHARMM: A Program for Macromolecular Energy, Minimization, and Dynamics Calculations. J Comput Chem 1983; 4:187-217.
17. Van Der Spoel D, Lindahl E, Hess B, Groenhof G, Mark A, Berendsen H. GROMACS: fast, flexible, and free. J Comput Chem 2005; 26:1701-1718. [PMID: 16211538]
18. Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology 2005; 112:1017-1022. [PMID: 15885785]
19. Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C. A corneal dystrophy associated with transforming growth factor betainduced Gly623Asp mutation an amyloidogenic phenotype. Ophthalmology 2009; 116:46-51. [PMID: 19019446]
20. Endo S, Nguyen TH, Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, Ishida N, Kanai A. Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I. Am J Ophthalmol 1999; 128:104-106. [PMID: 10482106]
21. Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, Kanai A. A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet 1998; 103:286-289. [PMID: 9799082]
22. Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002; 43:949-954. [PMID: 11923233]
23. Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet 1998; 62:719-722. [PMID: 9497262]
24. Branden CI, Tooze J. Introduction to protein structure. In, Pub G, editor. 2nd edition. NewYork: Garland Publishing; 1999.
25. Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype-phenotype correlations. Exp Eye Res 2009; 89:172-177. [PMID: 19303004]
26. Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A, Liu Z. Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol 2005; 49:84-88. [PMID: 15838722]
27. Tsujikawa K, Tsujikawa M, Yamamoto S, Fujikado T, Tano Y. Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. Am J Med Genet 2002; 113:20-22. [PMID: 12400061]
28. Dighiero P, Drunat S, D'Hermies F, Renard G, Delpech M, Valleix S. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. Arch Ophthalmol 2000; 118:814-818. [PMID: 10865320]