Gonadal Mosaicism of Frasier Syndrome in 3 Chinese Siblings With Donor Splice Site Mutation of Wilms' Tumour Gene

Nephron. 2002 Jul;91(3):526-9. doi: 10.1159/000064302.

Abstract

Frasier syndrome is a rare human developmental disorder classically affecting 46,XY females and leading to male pseudohermaphroditism and chronic renal failure. We describe a family with both 46,XX and 46,XY females affected by the syndrome due to WT1 splice site mutations. The diagnosis of Frasier syndrome in 1 of the children led to the discovery of the syndrome in 2 other siblings, of whom 1 is asymptomatic. Since the mutation was not found in either parents, gonadal mosaicism was suggested. The implication of family screening for WT1 gene mutation in asymptomatic members is also discussed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • China
  • Denys-Drash Syndrome / genetics*
  • Female
  • Genes, Wilms Tumor*
  • Genetic Testing
  • Glomerulosclerosis, Focal Segmental / physiopathology
  • Gonads
  • Humans
  • Kidney Glomerulus / pathology
  • Male
  • Middle Aged
  • Mosaicism / genetics*
  • Mutation*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Proteinuria / physiopathology
  • Sequence Analysis, DNA
  • Siblings