A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

被引：13

作者：

Hu, M

Craig, J

Howard, N

Kan, A

Chaitow, J

Little, D

Alexander, SI

机构：

[1] Childrens Hosp Westmead, Dept Nephrol, Ctr Kidney Res, Westmead, NSW 2145, Australia

[2] Childrens Hosp Westmead, Inst Endocrinol & Diabet, Westmead, NSW 2145, Australia

[3] Childrens Hosp Westmead, Dept Pathol, Westmead, NSW 2145, Australia

[4] Childrens Hosp Westmead, Dept Rheumatol, Westmead, NSW 2145, Australia

[5] ICPMR, Dept Forens Med, Westmead, NSW, Australia

来源：

PEDIATRIC NEPHROLOGY | 2004年 / 19卷 / 10期

关键词：

Denys-Drash syndrome; Frasier syndrome; missense mutation; Wilms tumor;

D O I：

10.1007/s00467-004-1564-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.

引用

页码：1160 / 1163

页数：4

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