Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2549-2556

  Aldave, Anthony J ^a   Yellore, Vivek S ^a   Yu, Fei ^a   Bourla, Nirit ^a   Sonmez, Baris ^a   Salem, Andrew K ^a   Rayner, Sylvia A ^a   Sampat, Kapil M ^a   Krafchak, Charles M ^b   Richards, Julia E ^b  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Abdominal hernia; Inguinal hernia; Posterior polymorphous corneal dystrophy; Two handed zinc finger homeodomain transcription factor gene (TCF8)

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 8; UNCLASSIFIED DRUG;

ABDOMINAL WALL HERNIA; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY STUDY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; INGUINAL HERNIA; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POSTERIOR POLYMORPHOUS CORNEA DYSTROPHY; PREVALENCE; PRIORITY JOURNAL; ZINC FINGER MOTIF;

CORNEAL DYSTROPHIES, HEREDITARY; DNA; FEMALE; HERNIA, ABDOMINAL; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 35848932106     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31978     Document Type: Article

References (26)

1. Aldave AJ, Sonmez B. 2007. Elucidating the molecular genetic basis of the corneal dystrophies: Are we there yet? Arch Ophthalmol 125:177-186.
2. Aldave AJ, Yellore VS, Principe AH, Abedi G, Merrill K, Chalukya M, Small KW, Udar N. 2005. Candidate gene screening for posterior polymorphous dystrophy. Cornea 24:151-155.
3. Anderson NJ, Badawi DY, Grossniklaus HE, Stulting RD. 2001. Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome. Arch Ophthalmol 119:624-625.
4. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. 2001. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII Collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 10:2415-2423.
5. Chandrakala R, Vijayashankara CN. 2005. Neonatal inguinal hernia. Indian Pediatr 42:1048.
6. Choi H, Kim KM, Koh SK, Kim KS, Woo YN, Yoon JB, Choi SK, Kim SW. 1989. A survey of externally recognizable genitourinary anomalies in Korean newborns. Korean Urological Association. J Korean Med Sci 4:13-21.
7. Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND. 2005. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 46: 4480-4484.
8. Heon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. 1995. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 4:485-488.
9. Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. 2002. VS X1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 11:1029-1036.
10. Kapur P, Caty MG, Click PL. 1998. Pediatric hernias and hydroceles. Pediatr Clin North Am 45:773-789.
11. Klinge U, Zheng H, Si Z, Schumpelick V, Bhardwaj RS, Muys L, Klosterhalfen B. 1999a. Expression of the extracellular matrix proteins collagen I, collagen III and fibronectin and matrix metalloproteinase-1 and -13 in the skin of patients with inguinal hernia. Eur Surg Res 31:480-490.
12. Klinge U, Zheng H, Si ZY, Schumpelick V, Bhardwaj R, Klosterhalfen B. 1999b. Synthesis of type I and III collagen, expression of fibronectin and matrix tnetalloproteinases-1 and -13 in hernial sac of patients with inguinal hernia. Int J Surg Investig 1:219-227.
13. Kobayashi A, Eujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A. 2004. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol 48:195-198.
14. Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Guckian Kijek T, Johnson JM, Trager EH, Rozsa FW, Mandal MNA, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. 2005. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet 77:694-708.
15. Liem MS, van der Graaf Y, Beemer FA, van Vroonhoven TJ. 1997. Increased risk for inguinal hernia in patients with Ehlers-Danlos syndrome. Surgery 122:114-115.
16. Murray D, Precht P, Balakir R, Horton WE Jr. 2000. The transcription factor deltaEF1 is inversely expressed with type II collagen mRNA and can repress Col2a1 promoter activity in transfected chondrocytes. J Biol Chem 275:3610-3618.
17. Ozdogan M, Yildiz F, Gurer A, Orhun S, Kulacoglu H, Aydin R. 2006. Changes in collagen and elastic fiber contents of the skin, rectus sheath, transversalis fascia and peritoneum in primary inguinal hernia patients. Bratisl Lek Listy 107:235-238.
18. Ponticos M, Partridge T, Black CM, Abraham DJ, Bou-Gharios G. 2004. Regulation of collagen type I in vascular smooth muscle cells by competition between Nkx2.5 and deltaEF1/Z EB1. Mol Cell Biol 24:6151-6161.
19. Rosch R, Klinge U, Si Z, Junge K, Klosterhalfen B, Schumpelick V. 2002. A role for the collagen I/III and MMP-1/-13 genes in primary inguinal hernia? BMC Med Genet 3:2.
20. Szczesny W, Cerkaska K, Tretyn A, Dabrowiecki S. 2006. Etiology of inguinal hernia: Ultrastructure of rectus sheath revisited. Hernia 10:266-271.
21. Taniguchi S, Ueda K, Inoue T, Li TS, Kuga T, Hamano K. 2006. Impact of collagen subtype proportions in peritoneal tissues on inguinal hernia formation in adults and infants. Pediatr Surg Int 22:600-604.
22. Terraz C, Toman D, Delauche M, Ronco P, Rossert J. 2001. Delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(1) collagen gene and represses its expression in osteoblasts. J Biol Chem 276:37011-37019.
23. Yegane RA, Kheirollahi AR, Bashashati M, Rezaei N, Tarrahi MJ, Khoshdel JA. 2005. The prevalence of penoscrotal abnormalities and inguinal hernia in elementary-school boys in the west of Iran. Int J Urol 12:479-483.
24. Yellore VS, Rayner SA, Emmert-Buck L, Tabin GC, Raber I, Hannush SB, Stulting RD, Sampat K, Momi R, Principe AH, Aldave AJ. 2005. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci 46:1599-1603.
25. Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ. 2007. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med 9:228-234.
26. Yucesan S, Dindar H, Olcay I, Okur H, Kilicaslan S, Ergoren Y, Tuysuz C, Koca M, Civilo B, Sen I. 1993. Prevalence of congenital abnormalities in Turkish school children. Eur J Epidemiol 9:373-380.