title: WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.
abstract: OBJECTIVE
  The Wilms' Tumour gene is thought to have tumour suppressor activity and to play an important role in nephrogenesis, genitourinary development, haematopoiesis and sex determination. WT1 mutations will impair gonadal and urinary tract development and have been demonstrated to cause syndromes of WAGR, Denys-Drash and Fraiser.
  
  
  METHODS
  To elucidate the role of constitutional mutations of WT1, in the expression of the different clinical feature, we describe a 14-year-9-month nonmosaic XY sex-reversed woman with pure gonadal dysgenesis (46, XY karyotype, completely female external genitalia, normal Mullerian ducts, absence of Wolffian ducts, streak gonads) who had right kidney removed at 7 months of age because of Wilms' tumour and was diagnosed as secondary thrombocytopenia (Plt 60-80 × 10(9) /L) since she was 4 years old. We sequenced the genomic DNA of all the 10 exons of the WT1 in which mutations may occur in proposita.
  
  
  RESULTS
  A new de novo insertion mutation in the first exon was found. A 'GCCGCCTCACTCC' is inserted between codon 138 and 139, resulting in the creation of a stop codon and a truncated protein.
  
  
  CONCLUSIONS
  The present data provide further evidence to support the role of WT1 in diverse cellular functions.
authors.affiliation: Division of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Yang-li
authors.initials: YL
authors.lastname: Dai
authors.forename: Jun-Fen
authors.initials: JF
authors.lastname: Fu
authors.forename: Fang
authors.initials: F
authors.lastname: Hong
authors.forename: Shan
authors.initials: S
authors.lastname: Xu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*