Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

American Journal of Human Genetics

Volumn 86, Issue 1, 2010, Pages 45-53

  Riazuddin, S Amer ^a   Zaghloul, Norann A ^a   Al Saif, Amr ^a   Davey, Lisa ^a   Diplas, Bill H ^a   Meadows, Danielle N ^b   Eghrari, Allen O ^b   Minear, Mollie A ^c   Li, Yi Ju ^c   Klintworth, Gordon K ^c   Afshari, Natalie ^c   Gregory, Simon G ^c   Gottsch, John D ^b   Katsanis, Nicholas ^a,d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 9P; CONGENITAL CORNEA DYSTROPHY; FCD4 GENE; FEMALE; GENE; GENE INTERACTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; TCF8 GENE;

ADULT; AGE OF ONSET; AGED; ALLELES; CHROMOSOMES, HUMAN, PAIR 9; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; TRANSCRIPTION FACTORS;

EID: 73149085311     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.12.001     Document Type: Article

References (23)

1. Wilson S.E., and Bourne W.M. Fuchs' dystrophy. Cornea 7 (1988) 2-18
2. Klintworth G.K. Corneal dystrophies. Orphanet J. Rare Dis. 4 (2009) 7
3. Lorenzetti D.W., Uotila M.H., Parikh N., and Kaufman H.E. Central cornea guttata. Incidence in the general population. Am. J. Ophthalmol. 64 (1967) 1155-1158
4. Mannis M.J., Holland E.J., Beck R.W., Belin M.W., Goldberg M.A., Gal R.L., Kalajian A.D., Kenyon K.R., Kollman C., Ruedy K.J., et al., Cornea Donor Study Group. Clinical profile and early surgical complications in the Cornea Donor Study. Cornea 25 (2006) 164-170
5. Krachmer J.H., Purcell Jr. J.J., Young C.W., and Bucher K.D. Corneal endothelial dystrophy. A study of 64 families. Arch. Ophthalmol. 96 (1978) 2036-2039
6. Gottsch J.D., Sundin O.H., Rencs E.V., Emmert D.G., Stark W.J., Cheng C.J., and Schmidt G.W. Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography. Cornea 25 (2006) 485-489
7. Goar E.L. Dystrophy of the corneal endothelium (Cornea Guttata), with report of a histologic examination. Trans. Am. Ophthalmol. Soc. 31 (1933) 48-59
8. Sundin O.H., Jun A.S., Broman K.W., Liu S.H., Sheehan S.E., Vito E.C., Stark W.J., and Gottsch J.D. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest. Ophthalmol. Vis. Sci. 47 (2006) 140-145
9. Sundin O.H., Broman K.W., Chang H.H., Vito E.C., Stark W.J., and Gottsch J.D. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest. Ophthalmol. Vis. Sci. 47 (2006) 3919-3926
10. Riazuddin S.A., Eghrari A.O., Al-Saif A., Davey L., Meadows D.N., Katsanis N., and Gottsch J.D. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest. Ophthalmol. Vis. Sci. 50 (2009) 5667-5671
11. Vithana E.N., Morgan P.E., Ramprasad V., Tan D.T., Yong V.H., Venkataraman D., Venkatraman A., Yam G.H., Nagasamy S., Law R.W., et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum. Mol. Genet. 17 (2008) 656-666
12. Krafchak C.M., Pawar H., Moroi S.E., Sugar A., Lichter P.R., Mackey D.A., Mian S., Nairus T., Elner V., Schteingart M.T., et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am. J. Hum. Genet. 77 (2005) 694-708
13. Aldave A.J., Yellore V.S., Yu F., Bourla N., Sonmez B., Salem A.K., Rayner S.A., Sampat K.M., Krafchak C.M., and Richards J.E. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am. J. Med. Genet. A. 143A (2007) 2549-2556
14. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., de Bakker P.I., Daly M.J., and Sham P.C. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81 (2007) 559-575
15. Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin-Rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30 (2002) 97-101
16. Lathrop G.M., and Lalouel J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36 (1984) 460-465
17. Mehta J.S., Vithana E.N., Tan D.T., Yong V.H., Yam G.H., Law R.W., Chong W.G., Pang C.P., and Aung T. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 49 (2008) 184-188
18. Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31 (2003) 3812-3814
19. Sunyaev S., Ramensky V., Koch I., Lathe III W., Kondrashov A.S., and Bork P. Prediction of deleterious human alleles. Hum. Mol. Genet. 10 (2001) 591-597
20. Muraoka O., Ichikawa H., Shi H., Okumura S., Taira E., Higuchi H., Hirano T., Hibi M., and Miki N. Kheper, a novel ZFH/deltaEF1 family member, regulates the development of the neuroectoderm of zebrafish (Danio rerio). Dev. Biol. 228 (2000) 29-40
21. Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Al-Fadhel M., Lewis R.A., Eyaid W., et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 40 (2008) 443-448
22. Vandewalle C., Van Roy F., and Berx G. The role of the ZEB family of transcription factors in development and disease. Cell. Mol. Life Sci. 66 (2009) 773-787
23. Ikeda K., and Kawakami K. DNA binding through distinct domains of zinc-finger-homeodomain protein AREB6 has different effects on gene transcription. Eur. J. Biochem. 233 (1995) 73-82