title: Mutations in intron 8 and intron 9 of Wilms' tumor genes in members of family with ureteropelvic junction obstruction.
abstract: Ureteral obstruction with subsequent hydronephrosis is clinically common. Most cases are identified and diagnosed in the perinatal period. The diagnosis of ureteropelvic junction obstruction (UPJO) implies a functionally significant impairment of the urinary transportation from the renal pelvis to the ureter. Although most cases are probably congenital in origin, they can clinically remain hidden until much later in life. UPJO is usually considered an isolated event. Recently, we have evaluated a father and his 3 sons, all of whom had UPJO. This study reports a missense mutation of threonine 386, which was replaced with alanine in Wilms' tumor genes. We suggest that UPJO might not necessarily be sporadic and other family members might have a similar problem.
authors.affiliation: Department of Urology, Urology and Nephrology Research Center, Shohada Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran. karami_hosein@yahoo.com
authors.forename: Hossein
authors.initials: H
authors.lastname: Karami
authors.forename: Bahram
authors.initials: B
authors.lastname: Kazemi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Jabbari
authors.forename: Taban
authors.initials: T
authors.lastname: Rahjoo
authors.forename: Alireza
authors.initials: A
authors.lastname: Golshan
mesh_terms: D000293:Adolescent; D016162:Genes, Wilms Tumor; D006801:Humans; D007438:Introns / Q000235:genetics*; D007682:Kidney Pelvis; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014517:Ureteral Obstruction / Q000235:genetics*