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.
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U2 - 10.1203/00006450-200109000-00008
DO - 10.1203/00006450-200109000-00008
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 -