A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation

Jun Sakamoto, Ayako Takata, Ryuji Fukuzawa, Haruhito Kikuchi, Masahiko Sugiyama, Yutaka Kanamori, Kohei Hashizume, Jun Ichi Hata

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.

Original languageEnglish
Pages (from-to)337-344
Number of pages8
JournalPediatric Research
Volume50
Issue number3
Publication statusPublished - 2001

Fingerprint

Wilms Tumor
Mutation
Genes
Introns
Exons
Mothers
Kidney
Chromosomes, Human, Pair 11
RNA Splice Sites
Loss of Heterozygosity
Zinc Fingers
Human Chromosomes
Point Mutation
Neoplasms
Carcinogenesis
Alleles
Proteins

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Sakamoto, J., Takata, A., Fukuzawa, R., Kikuchi, H., Sugiyama, M., Kanamori, Y., ... Hata, J. I. (2001). A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation. Pediatric Research, 50(3), 337-344.

A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation. / Sakamoto, Jun; Takata, Ayako; Fukuzawa, Ryuji; Kikuchi, Haruhito; Sugiyama, Masahiko; Kanamori, Yutaka; Hashizume, Kohei; Hata, Jun Ichi.

In: Pediatric Research, Vol. 50, No. 3, 2001, p. 337-344.

Research output: Contribution to journalArticle

Sakamoto, J, Takata, A, Fukuzawa, R, Kikuchi, H, Sugiyama, M, Kanamori, Y, Hashizume, K & Hata, JI 2001, 'A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation', Pediatric Research, vol. 50, no. 3, pp. 337-344.
Sakamoto J, Takata A, Fukuzawa R, Kikuchi H, Sugiyama M, Kanamori Y et al. A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation. Pediatric Research. 2001;50(3):337-344.
Sakamoto, Jun ; Takata, Ayako ; Fukuzawa, Ryuji ; Kikuchi, Haruhito ; Sugiyama, Masahiko ; Kanamori, Yutaka ; Hashizume, Kohei ; Hata, Jun Ichi. / A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation. In: Pediatric Research. 2001 ; Vol. 50, No. 3. pp. 337-344.
@article{1e1fee3619b048fbbd4684f95013ac05,
title = "A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation",
abstract = "WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.",
author = "Jun Sakamoto and Ayako Takata and Ryuji Fukuzawa and Haruhito Kikuchi and Masahiko Sugiyama and Yutaka Kanamori and Kohei Hashizume and Hata, {Jun Ichi}",
year = "2001",
language = "English",
volume = "50",
pages = "337--344",
journal = "Pediatric Research",
issn = "0031-3998",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - A novel WT1 gene mutation associated with Wilms' tumor and congenital male genitourinary malformation

AU - Sakamoto, Jun

AU - Takata, Ayako

AU - Fukuzawa, Ryuji

AU - Kikuchi, Haruhito

AU - Sugiyama, Masahiko

AU - Kanamori, Yutaka

AU - Hashizume, Kohei

AU - Hata, Jun Ichi

PY - 2001

Y1 - 2001

N2 - WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.

AB - WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.

UR - http://www.scopus.com/inward/record.url?scp=0034874335&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034874335&partnerID=8YFLogxK

M3 - Article

C2 - 11518820

AN - SCOPUS:0034874335

VL - 50

SP - 337

EP - 344

JO - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

IS - 3

ER -