Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 5, 2013, Pages 3215-3223

  Lechner, Judith ^a   Dash, Durga P ^a   Muszynska, Dorota ^a   Hosseini, Mohsen ^b   Segev, Fani ^c   George, Sonia ^d   Frazer, David G ^d   Moore, Jonathan E ^d   Kaye, Stephen B ^e   Young, Terri ^f   Simpson, David A ^a   Churchill, Amanda J ^g   Héon, Elise ^b   Willoughby, Colin E ^a,d,h  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MEIR MEDICAL CENTER   (Israel)

^d ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^e ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF BRISTOL   (United Kingdom)

^h UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

Corneal dystrophies; Fuchs' endothelial dystrophy; Hereditary; Keratoconus; Posterior polymorphous corneal dystrophy; ZEB1

Indexed keywords

COLLAGEN TYPE 4; TRANSCRIPTION FACTOR ZEB1;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA CELL; CORNEA DYSTROPHY; CORNEA TRANSPLANTATION; DOWN REGULATION; GENE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; KERATOCONUS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; ZEB1 GENE;

CORNEAL DYSTROPHIES; FUCHS' ENDOTHELIAL DYSTROPHY; HEREDITARY; KERATOCONUS; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; ZEB1;

ADULT; BASE SEQUENCE; CELLS, CULTURED; COLLAGEN TYPE IV; COLLAGEN TYPE VIII; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL KERATOCYTES; CORNEAL TOPOGRAPHY; CORNEAL TRANSPLANTATION; DNA MUTATIONAL ANALYSIS; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC ASSOCIATION STUDIES; HOMEODOMAIN PROTEINS; HUMANS; KERATOCONUS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 84877117035     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-11781     Document Type: Article

References (47)

1. Weiss JS, Moller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27(suppl 2):S1-S83.
2. Cibis GW, Krachmer JA, Phelps CD, Weingeist TA. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol. 1977;95:1529-1537.
3. Krachmer JH. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc. 1985;83:413-475.
4. Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalmic Genet. 2010;31:230-234.
5. 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 Genet. 2005;77:694-708.
6. Nguyen DQ, Hosseini M, Billingsley G, Heon E, Churchill AJ. Clinical phenotype of posterior polymorphous corneal dys- trophy in a family with a novel ZEB1 mutation. Acta Ophthalmol. 2010;88:695-699.
7. Heon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995;4:485-488.
8. 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.
9. 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.
10. Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, McGhee CN. Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. Mol Vis. 2009;15:2544-2553.
11. Aldave AJ, Yellore VS, Yu F, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007;143A:2549-2556.
12. Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11:1029-1036.
13. 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.
14. Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010;86:45-53.
15. Mehta JS, Vithana EN, Tan DT, et al. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2008;49:184-188.
16. Salouti R, Nowroozzadeh MH, Zamani M, Ghoreyshi M. Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. Clin Exp Optom. 2010;93:268-270.
17. Gasset AR, Zimmerman TJ. Posterior polymorphous dystrophy associated with keratoconus. Am J Ophthalmol. 1974;78:535-537.
18. Driver PJ, Reed JW, Davis RM. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1994;118:256-257.
19. Weissman BA, Ehrlich M, Levenson JE, Pettit TH. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci. 1989;66:243-246.
20. Mazzotta C, Baiocchi S, Caporossi O, et al. Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy. J Cataract Refract Surg. 2008;34:318-321.
21. Bechara SJ, Grossniklaus HE, Waring GO III, Wells JA III. Keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1991;112:729-731.
22. Dash DP, George S, O'Prey D, et al. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond). 2010;24:1085-1092.
23. Burdon KP, Macgregor S, Bykhovskaya Y, et al. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. Invest Ophthalmol Vis Sci. 2011;52: 8514-8519.
24. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000;132: 365-386.
25. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
26. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
27. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics. 2005;21: 3176-3178.
28. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37:e67.
29. Wang X, Spandidos A, Wang H, Seed B. Primer Bank: a PCR primer database for quantitative gene expression analysis, 2012 update. Nucleic Acids Res. 2012;40:D1144-D1149.
30. Ren S, Zhang F, Li C, et al. Selection of housekeeping genes for use in quantitative reverse transcription PCR assays on the murine cornea. Mol Vis. 2010;16:1076-1086.
31. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
32. Vandewalle C, Van Roy F, Berx G. The role of the ZEB family of transcription factors in development and disease. Cell Mol Life Sci. 2009;66:773-787.
33. Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 1998;62: 320-324.
34. Munier FL, Frueh BE, Othenin-Girard P, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002;43:949-954.
35. Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016-1024.
36. Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 1997;18:161-173.
37. Liu Y, Peng X, Tan J, Darling DS, Kaplan HJ, Dean DC. Zeb1 mutant mice as a model of posterior corneal dystrophy. Invest Ophthalmol Vis Sci. 2008;49:1843-1849.
38. Yellore VS, Rayner SA, Nguyen CK, et al. Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2012;53:273-278.
39. Stachs O, Bochert A, Gerber T, Koczan D, Thiessen HJ, Guthoff RF. The extracellular matrix structure in keratoconus [in German]. Ophthalmologe. 2004;101:384-389.
40. Kenney MC, Nesburn AB, Burgeson RE, Butkowski RJ, Ljubimov AV. Abnormalities of the extracellular matrix in keratoconus corneas. Cornea. 1997;16:345-351.
41. Stabuc-Silih M, Ravnik-Glavac M, Glavac D, Hawlina M, Strazisar M. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Mol Vis. 2009;15:2848-2860.
42. Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C. Ophthalmological features associated with COL4A1 mutations. Arch Ophthalmol. 2010;128:483-489.
43. Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007;16:798-807.
44. Karolak JA, Kulinska K, Nowak DM, et al. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. Mol Vis. 2011;17:827-843.
45. Hopfer U, Fukai N, Hopfer H, et al. Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J. 2005;19:1232-1244.
46. Aldave AJ, Bourla N, Yellore VS, et al. Keratoconus is not associated with mutations in COL8A1 and COL8A2. Cornea. 2007;26:963-965.
47. Tan DT, Dart JK, Holland EJ, Kinoshita S. Corneal transplantation. Lancet. 2012;379:1749-1761.