Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset fuchs endothelial corneal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 1, 2008, Pages 184-188

  Mehta, Jodhbir S ^a,b   Vithana, Eranga N ^a,c   Tan, Donald T H ^a,b,c   Yong, Victor H K ^a   Yam, Gary H F ^d   Law, Ricky W K ^d   Chong, Wesley G W ^c   Pang, Calvin P ^d   Aung, Tin ^a,b,c  

^a SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^b SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZEB1 PROTEIN, HUMAN; ZINC FINGER PROTEIN;

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RACE DIFFERENCE; TCF8 GENE; GENETICS; MIDDLE AGED; POLYMERASE CHAIN REACTION;

AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 39549098200     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-0847     Document Type: Article

References (32)

1. Adamis AP, Filatov V, Tripathi BJ, Tripathi RC. Fuchs' endothelial dystrophy of the cornea. Surv Ophthalmol. 1993;38:149-168.
2. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD. Corneal endothelial dystrophy: a study of 64 families. Arch Ophthalmol. 1978; 96:2036-2039.
3. Waring GO, Bourne WM, Edelhauser HF, Kenyon KR. The corneal endothelium: normal and pathologic structure and function. Ophthlamology. 1982;89:531-590.
4. Pineros O, Cohen EJ, Rapuano CJ, Liabson PR. Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. Arch Ophthalmol. 1996;114:15-18.
5. Melles GR, Eggink FA, Lander F, et al. A surgical technique for posterior lamellar keratoplasty. Cornea. 1998;17:618-626.
6. Melles GR, Wijdh RH, Nieuwendaal CP. A technique to excise the descemet membrane from a recipient cornea (descemetorhexis). Cornea. 2004;23:286-288.
7. Mamalis N, Anderson CW, Kreisler KR, Lundergan MK, Olson RJ. Changing trends in the indications for penetrating keratoplasty. Arch Ophthalmol. 1992;110:1409-14011.
8. Terry MA, Ousley PJ. Replacing the endothelium without corneal surface incisions or sutures: the first United States clinical series using the deep lamellar endothelial keratoplasty procedure. Ophthalmology. 2003;110:755-764, discussion 764.
9. Price FW, Price MO. Descemet's stripping with endothelial keratoplasty in 200 eyes: early challenges and techniques to enhance donor adherence. J Cataract Refract Surg. 2006;32:411-418.
10. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol. 1971;85:268-272.
11. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' dystrophy. Am J Ophthalmol. 1980;90:455-462.
12. Magovern M, Beauchamp GR, Mc Tigue JW, et al. Inheritance of Fuchs' combined dystrophy. Ophthalmology. 1979;86:1897-1923.
13. Aldave AJ, Rayner SA, Salem AK, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47:3787-3790.
14. Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
15. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
16. Kobayashi A, Fujiki K, Murakami A, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004; 48:195-198.
17. Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
18. Undin OH, Broman KW, Chang HH, et al. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci. 2006;47:3919-3926.
19. Bahn CF, Falls HF, Varley GA, et al. Classification of corneal endothelial disorders based on neural crest origin. Ophthalmology. 1984;91:558-563.
20. Hidayat AA, Cockerham GC. Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. Cornea. 2006;25: 956-959.
21. Rodrigues MM, Krachmer JH, Hackett J, et al. Fuchs' corneal dystrophy: a clinicopathologic study of the variation in corneal edema. Ophthalmology. 1986;93:789-796.
22. Matsumoto K, Weber PA, Makley TA. Posterior polymorphous dystrophy-a histopathologic presentation. Ann Ophthalmol. 1988;20:388-390.
23. Levy SG, Moss J, Sawada H, et al. The composition of wide-spaced collagen in normal and diseased Descemet's membrane. Curr Eye Res. 1996;15:45-52.
24. Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Gent. 2005;77:694-708.
25. Moroi SE, Gokhale P, Schteingart MT, et al. Clinicopathological correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol. 2003;135:461-470.
26. Shimizu S, Krafchak C, Fuse N, et al. A locus for posterior polymorphous dystrophy (PPCD3) maps to chromosome 10. Am J Med Gent. 2004;130:372-377.
27. Terraz C, Toman D, Delauche M, Ronco P, Rossert J. Delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(I) collagen gene and represses its expression in osteoblasts. J Biol Chem. 2001;276:37011-37019.
28. Frisch SM. E1a induces the expression of epithelial characteristics. J Cell Biol. 1994;127:1085-1096.
29. Ikeda K, Kawakami K. DNA binding through distinct domains of zinc-finger-homeodomain protein AREB6 has different effects on gene transcription. Eur J Biochem. 1995;233:73-82.
30. Liskova P, Tuft SJ, Gwilliam R, et al. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat. 2007;28:638.
31. Tanhehco T, Eifrig DE, Schwab IR, et al. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type 111) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol. 2006;124:589-593.
32. Aldave AJ, Sonmez B. Elucidating the molecular genetic basis of the corneal dystrophies. Arch Ophthalmol. 2007;125:177-186.