Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations

Clinical Genetics

Volumn 56, Issue 1, 1999, Pages 1-9

  Ecoles, Michael R ^a   Schimmenti, Lisa A ^b  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Hearing loss; Optic nerve coloboma; Paired box gene; PAX2; Renal anomalies; Renal coloboma syndrome; Vesico ureteral reflux

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL FEATURE; COLOBOMA; DEVELOPMENTAL DISORDER; GENE MUTATION; GENITAL MALFORMATION; HEARING LOSS; HUMAN; KIDNEY MALFORMATION; PRIORITY JOURNAL; REVIEW; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; ANIMALS; COLOBOMA; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; KIDNEY DISEASES; MUTATION; OPTIC NERVE DISEASES; PAX2 TRANSCRIPTION FACTOR; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0032818483     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560101.x     Document Type: Review

References (39)

1. Reiger G. Zum krankheitsbild der Handmannschen sehnervenanomalie: windenbluten-(Morning Glory) syndrom? Klin Mbl Augenheilk 1977: 170: 697-706.
2. Karcher H. Zum Morning Glory syndrom. Klin Mbl Augenheilk 1979: 175: 835-840.
3. Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M. Optic nerve coloboma associated with renal disease. Am J Med Genet 1988: 29: 597-605.
4. Bron AJ, Burgess SE, Awdry PN, Oliver D, Arden G. Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature. Ophthalmic Paediatr Genet 1989: 10: 185-198.
5. Legros Y, Carrenard JR, Cortes FM, Sanchez JM. Sindrome de 'ojo de gato' con agenesia renal derecha. Aportacion de un caso y revision de la literatura. An Esp Pediatr 1992: 36: 317-319.
6. Schimmenti LA, Pierpont ME, Carpenter BLM, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 1995: 59: 204-208.
7. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet 1995: 9: 358-364.
8. Puschel AW, Westerfield M, Dressier GR. Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish. Mech Dev 1992: 38: 197-208.
9. Dressier GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 1990: 109: 787-795.
10. Keller SA, Jones JM, Boyle A, Barrow LL, Killen PD, Green DG, Kapousta NV, Hitchcock PF, Swank RT, Meisler MH. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics 1994: 23: 309-320.
11. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR. Mutation of PAX2 in two siblings with renalcoloboma syndrome. Hum Mol Genet 1995: 4: 2183-2184.
12. Narahara K, Baker E, Ito S, Yokoyama Y, Yu S, Hewitt D, Sutherland GR, Eccles MR, Richards RI Localization of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 1997: 34: 213-216.
13. Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MM, Shim HH, Zhang Y-H, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Further delineation of renalcoloboma syndrome in patients with remarkable variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997: 60: 869-878.
14. Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 1998: 35: 806-812.
15. Devriendt K, Matthijs G, Vandamme B, Vancaesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet 1998: 103: 149-153.
16. Mansouri A, Hallonet M, Gruss P. Pax genes and their roles in cell differentiation and development. Curr Opin Cell Biol 1996: 8: 851-857.
17. Dahl E, Koseki H, Balling R. Pax genes and organogenesis. BioEssays 1997: 19: 755-764.
18. Xu W, Rould MA, Jun S, Desplan C, Pabo CO. Crystal structure of a paired domain-DNA complex at 2.5 Å resolution reveals structural basis for Pax developmental mutations. Cell 1995: 80: 639-650.
19. Stapelton P, Weith A, Urbánek P, Kozmik Z, Busslinger M. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nature Genet 1993: 3: 292-298.
20. Pilz AJ, Povey S, Gruss P, Abbott CM. Mapping of the human homologues of the murine paired-box-containing genes. Mamm Genome 1993: 4: 78-82.
21. Lechner MS, Dressier GR. Mapping of Pax-2 transcription activation domains. J Biol Chem 1996: 271: 21088-21093.
22. Noll M. Evolution and role of Pax genes. Curr Opin Genet Dev 1993: 3: 595-605.
23. Dorfler P, Busslinger M. C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5), Pax-2 and Pax-8. EMBO J 1996: 15: 1971-1982.
24. Eccles MR, Wallis LJ, Fidler AE, Spurr NK, Goodfellow PJ, Reeve AE. Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. Cell Growth Differ 1992: 3: 279-289.
25. Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA, Eccles MR. Genomic structure of the human PAX2 gene. Genomics 1996: 35: 258-261.
26. Dressier GR, Douglass EC. Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc Natl Acad Sci USA 1992: 89: 1179-1183.
27. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998: 19: 83-86.
28. Nornes HO, Dressier GR, Knapik EW, Deutsch U, Gruss P. Spatially and temporally restricted expression of Pax2 during murine neurogenesis. Development 1990: 109: 797-809.
29. Fickenscher HR, Chalepakis G, Gruss P. Murine Pax-2 protein is a sequence-specific trans -activator with expression in the genital system. DNA Cell Biol 1993: 12: 381-391.
30. Otteson DC, Shelden E, Jones JM, Kameoka J. Hitchcock PF. Pax2 expression and retinal morphogenesis in the normal and Krd mouse. Devel Biol 1998: 193: 209-224.
31. Torres M, Gomez-Pardo E, Gruss P. Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 1996: 122: 2291-3381.
32. Burks C. Molecular biology database list. Nucleic Acids Res 1999: 27: 1-9.
33. Pagon RA. Ocular coloboma. Surv Ophthalm 1981: 25: 223-236.
34. Stefko ST, Campochiaro P, Wang P, Li Y, Zhu D, Traboulsi E. Dominant inheritance of optic pits. Amer J Ophthalm 1997: 124: 112-113.
35. Eccles MR, Bailey RR, Abbott GD, Sullivan MJ. Unravelling the genetics of vesicoureteric reflux: a common familial disorder. Hum Mol Genet 1996: 5: 1425-1429.
36. 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci USA 1996: 93: 13870-13875.
37. Torres M, Gomez-Pardo E. Dressier G. Gruss P. Pax-2 controls multiple steps of urogenital development. Development 1995: 121: 4057-4065.
38. Torres M, Giraldez F. The development of the vertebrate inner ear. Mech Dev 1998: 71: 5-21.
39. Winyard PJD, Risdon RA, Sams VR, Dressier GR, Woolf AS. The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J Clin Invest 1996: 98: 451-459.