Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype-phenotype correlations

Experimental Eye Research

Volumn 89, Issue 2, 2009, Pages 172-177

  Zenteno, Juan Carlos ^a,b   Correa Gomez, Vicente ^b   Santacruz Valdez, Concepción ^b   Suarez Sanchez, Raul ^b   Villanueva Mendoza, Cristina ^c  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^c HOSPITAL DR LUIS SÁNCHEZ BULNES   (Mexico)

Author keywords

corneal disease; corneal dystrophies; TGFBI gene; TGFBI mutation

Indexed keywords

ADENINE; ALANINE; ARGININE; ASPARTIC ACID; CYTOSINE; DNA; GUANINE; HISTIDINE; ISOLEUCINE; LEUCINE; METHIONINE; PROLINE; THYMINE; TRANSFORMING GROWTH FACTOR BETA1; TRYPTOPHAN; VALINE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CORNEA DYSTROPHY; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MEXICO; MUTATIONAL ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 67650588816     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2009.03.004     Document Type: Article

References (27)

1. Aldave A.J., Gutmark J.G., Yellore V.S., Affeldt J.A., Meallet M.A., Udar N., Rao N.A., Small K.W., and Klintworth G.K. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am. J. Ophthalmol. 138 (2004) 772-781
2. Aldave A.J., Rayner S.A., Kim B.T., Prechanond A., and Yellore V.S. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol. Vis. 12 (2006) 142-146
3. Aldave A.J., and Sonmez B. Elucidating the molecular genetic basis of the corneal dystrophies. Arch. Ophthalmol. 125 (2007) 177-186
4. Chakravarthi S.V., Kannabiran C., Sridhar M.S., and Vemuganti G.K. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest. Ophthalmol. Vis. Sci. 46 (2005) 121-125
5. Chang S.W., Tuli S., and Azar D.T. Corneal Dystrophies. In: Traboulsi E.I. (Ed). Genetic Diseases of the Eye (1998), Oxford University Press, New York 217-266
6. Chau H.M., Ha N.T., Cung L.X., Thanh T.K., Fujiki K., Murakami A., and Kanai A. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in vietnamese people. Br. J. Ophthalmol. 87 (2003) 686-689
7. Correa-Gomez V., Villalvazo-Cordero L., and Zenteno J.C. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. Mol. Vis. 13 (2007) 1695-1700
8. Dighiero P., Niel F., Ellies P., D'Hermies F., Savoldelli M., Renard G., Delpech M., and Valleix S. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology 108 (2001) 818-823
9. Dighiero P., Drunat S., D'Hermies F., Renard G., Delpech M., and 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. 118 (2000) 814-818
10. Eifrig Jr. D.E., Afshari N.A., Buchanan H.W., Bowling B.L., and Klintworth G.K. Polymorphic corneal amyloidosis. A disorder due to a novel mutation in the transforming growth factor B-induced (BIGH3) gene. Ophthalmology 111 (2004) 1108-1114
11. Kannabiran C., and Klintworth G.K. TGFBI gene mutations in corneal dystrophies. Hum. Mutat. 27 (2006) 615-625
12. Klintworth G.K., Bao W., and Afshari N.A. Two mutations in TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Invest. Ophthalmol. Vis. Sci. 45 (2004) 1382-1388
13. Klintworth G.K. Advances in the molecular genetics of corneal dystrophies. Am. J. Ophthalmol. 128 (1999) 747-754
14. Klintworth G.K. The molecular genetics of the corneal dystrophies - current status. Front. Biosci. 8 (2003) d687-d713
15. Mashima Y., Yamamoto S., Inoue Y., Yamada M., Konishi M., Watanabe H., Maeda N., Shimomura Y., and Kinoshita S. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am. J. Ophthalmol. 130 (2000) 516-517
16. Munier F.L., Frueh B.E., Othenin-Girard P., Uffer S., Cousin P., Wang M.X., Heon E., Black G.C., Blasi M.A., Balestrazzi E., Lorenz B., Escoto R., Barraquer R., Hoeltzenbein M., Gloor B., Fossarello M., Singh A.D., Arsenijevic Y., Zografos L., and Schorderet D.F. BIGH3 mutation spectrum in corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 43 (2002) 949-954
17. Munier F.L., Korvatska E., Djemai A., Le Paslier D., Zoógrafos L., Pescia G., and Schorderet D.F. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet. 15 (1997) 247-251
18. Pieramici S.F., and Afshari N.A. Genetics of corneal dystrophies: the evolving landscape. Curr. Opin. Ophthalmol. 17 (2006) 361-366
19. Poulaki V., and Colby K. Genetics of anterior and stromal corneal dystrophies. Semin. Ophthalmol. 23 (2008) 9-17
20. Rodrigues M.M., and Krachmer J.H. Recent advances in corneal stromal dystrophies. Cornea 7 (1988) 19-29
21. Schmitt-Bernard C.F., Guittard C., Arnaud B., Demaille J., Argiles A., Claustres M., Tuffery-Giraud S.,. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 41 (2000) 1302-1308
22. Skonier J., Neubauer M., Madisen L., Bennett K., Plowman G.D., and Purchio A.F. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell. Biol. 11 (1992) 511-522
23. Stewart H., Black G.C., Donnai D., Bonshek R.E., McCarthy J., Morgan S., Dixon M.J., and Ridgway R.R. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology 106 (1999) 964-970
24. Tanhehco T.Y., Eifrig Jr. D.E., Schwab I.R., Rapuano C.J., and Klintworth G.K. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch. Ophthalmol. 124 (2006) 589-593
25. Weiss J.S., Møller H.U., Lisch W., Kinoshita S., Aldave A.J., Belin M.W., Kivelâ T., Busin M., Munier F.L., Seiz B., Sutphin J., Bredrup C., Mannis M.J., Rapuano C.J., Van Rij G., Kim E.K., and Klintworth G.K. The IC3D classification of the corneal dystrophies. Cornea 27 Suppl. 2 (2008) S1-S42
26. 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. Am. J. Hum. Genet. 62 (1998) 719-722
27. Zenteno J.C., Ramirez-Miranda A., Santacruz-Valdes C., and Suarez-Sanchez R. 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 (2006) 331-335