title: A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
abstract: The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent normal function of this system. Recently, the splice mutations in intron 9 of WT1 gene have been detected in Frasier syndrome, which is characterized by streak gonads, pseudohermaphroditism, slowly progressive nephropathy and frequent development of gonadoblastoma. Here to elucidate the molecular basis in a Japanese patient of Frasier syndrome, WT1 gene was analyzed by polymerase-chain-reaction (PCR) and direct sequencing. We identified the splice junction mutation in intron 9 of WT1, which is recognized as a mutation hot-spot in intron 9. This finding concludes that 1) the mutation in intron 9 might be the cause of Frasier syndrome, and 2) the mutation hot-spot in Japanese and Caucasian patients is similar.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Okuhara
authors.forename: S
authors.initials: S
authors.lastname: Tajima
authors.forename: J
authors.initials: J
authors.lastname: Nakae
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: H
authors.initials: H
authors.lastname: Tochimaru
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D000293:Adolescent; D016162:Genes, Wilms Tumor / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics; D018238:Gonadoblastoma / Q000235:genetics; D006801:Humans; D007564:Japan; D007674:Kidney Diseases / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000601:surgery; D007678:Kidney Glomerulus / Q000473:pathology; D016030:Kidney Transplantation; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D017422:Sequence Analysis, DNA; D013577:Syndrome