A familial WT1 mutation associated with incomplete Denysrash syndrome

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• 作者：Chunhua Zhu (1) (2)
  Fei Zhao (1)
  Weizhen Zhang (1)
  Hongmei Wu (1)
  Ying Chen (1)
  Guixia Ding (1)
  Aihua Zhang (1) (2)
  Songming Huang (1) (2)
  
• 关键词：WT1 gene mutation ; Denysrash syndrome ; Children ; Family ; Frasier syndrome
• 刊名：European Journal of Pediatrics
• 出版年：2013
• 出版时间：October 2013
• 年：2013
• 卷：172
• 期：10
• 页码：1357-1362
• 全文大小：
• 作者单位：Chunhua Zhu (1) (2)
  Fei Zhao (1)
  Weizhen Zhang (1)
  Hongmei Wu (1)
  Ying Chen (1)
  Guixia Ding (1)
  Aihua Zhang (1) (2)
  Songming Huang (1) (2)
  
  1. Department of Nephrology, Nanjing Children Hospital, Nanjing Medical University, Nanjing, 210008, Jiangsu Province, China
  2. Institute of Pediatrics, Nanjing Medical University, Nanjing, China
  
• ISSN：1432-1076

文摘

Denysrash syndrome (DDS) is a rare disorder characterized by nephropathy, male pseudohermaphroditism, and wilms tumor. Cases are thought to arise sporadically through a de novo mutation in the wilms tumor suppressor gene (WT1), which encodes a zinc finger protein that not only acts as a tumor suppressor but is essential for normal gonadogenesis, nephrogenesis, and development of the urogenital tract. In this report, we describe a family with the well-known missense mutation in exon 9 of the WT1 gene, 1180C>T (R394W), causing incomplete DDS and no symptoms in their father. The proband, a boy with 46, XY karyotype, was born with ambiguous genitalia, penoscrotal hypospadias, and bilateral inguinal hernias. At 2years of age, he has proteinuria and diffuse mesangial sclerosis, but no wilms tumor has been detected. The elder sister of the proband, at 3years of age, has normal genitalia, proteinuria, focal mesangial sclerosis but no wilms tumor. The WT1 mutation was detected in both patients, who have suspected DDS, and their father, who is phenotypically normal. Conclusion: This case is unusual in that the 1180C>T mutation, which has been found in approximately 50% of patients with complete DDS, has been inherited and is causing mild or no symptoms of DDS.