Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 338-339

  Choi, Kai Luk ^a   McNoe, Leslie A ^a   French, Michelle C ^a   Guilford, Parry J ^a   Eccles, Michael R ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

PAX2 gene; Reflux nephropathy; Vesicoureteric reflux

Indexed keywords

DINUCLEOTIDE;

ARTICLE; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; EXON; FEMALE; GENE MUTATION; GENE SEGREGATION; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MULTIGENE FAMILY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; URETER; VESICOURETERAL REFLUX;

EID: 0031958207     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.338     Document Type: Article

References (17)

1. Bailey RR. An overview of reflux nephropathy. In: Hodson J, Kincaid-Smith P, eds. Reflux nephropathy. New York: Masson, 1979:3-13.
2. Report of the International Reflux Study Committee. Medical versus surgical treatment of primary vesicoureteral reflux. Pediatrics 1981;67:392-400.
3. Bailey RR, Lynn KL, Robson RA. End-stage reflux nephropathy. Renal Failure 1984;16:27-35.
4. Stephens FD, Lenaghan D. Anatomical basis and dynamics of vesicoureteral reflux. J Urol 1962;87:669-80.
5. Stephens FD. Correlation of ureteric orifice position with renal morphology. Trans Am Assoc Genitourin Surg 1976:53.
6. Heale WF, Shannon FT, Utley WLF, Rolleston GL, Familial and hereditary reflux nephropathy. In: Hodson J, Kincaid-Smith P, eds. Reflux nephropathy. New York: Masson, 1979:48-52.
7. 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;3:279-90.
8. Strachan T, Read A. PAX genes. Curr Opin Genet Dev 1994;4:427-38.
9. Sanyanusin P, Schimmenti LA, McNoe LA, et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, vesicoureteral reflux and renal anomalies. Nat Genet 1995;9:358-63.
10. Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical mutations. Am J Hum Genet 1997;60:869-78.
11. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995;4:1717-20.
12. Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA, Eccles MR. Genomic structure of the human PAX2 gene. Genomics 1996;35:258-61.
13. Whitaker J, Danks DM. A study of the inheritance of duplication of the kidneys and ureters. J Urol 1966;95:176-8.
14. Atwell JD, Cook PL, Strong L, Hyde I. The interrelationship between vesicoureteric reflux, trigonal abnormalities and a bifid pelvicalyceal system: a family study. Br J Urol 1977;49:97-105.
15. Atwell JD, Allen NH. The interrelationship between paraureteric diverticula, vesicoureteric reflux and duplication of the pelvicalyceal collecting system: a family study. Br J Urol 1980;52:269-73.
16. Atwell JD. Familial pelviureteric junction hydronephrosis and its association with a duplex pelvicalyceal system and vesicoureteric reflux: a family study. Br J Urol 1985;57:365-9.
17. Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL. Vesicoureteric reflux: segregation analysis. Am J Med Genet 1985;20:577-84.