title: Clinical and genetic findings of five patients with WT1-related disorders.
abstract: OBJECTIVE
  To present phenotypic variability of WT1-related disorders.
  
  
  METHODS
  Description of clinical and genetic features of five 46,XY patients with WT1 anomalies.
  
  
  RESULTS
  Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotrophic hypogonadism; patient 2 had a gonadoblastoma. The heterozygous IVS9+4, C>T mutation, compatible with Frasier syndrome was detected. Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and mental deficiency; a heterozygous 11p deletion, compatible with WAGR syndrome was detected. Patient 5: 2 months old, same diagnosis of patient 4; he developed WT at the age of 8 months.
  
  
  CONCLUSIONS
  Constitutional abnormalities of WT1 cause gonadal and renal anomalies and predisposition to neoplasia and must be investigated in patients with ambiguous genitalia, chronic renal disease and(or) Wilms tumors; primary amenorrhea with chronic renal disease; and aniridia, genital ambiguity and dysmorphisms.
authors.affiliation: Universidade de Campinas, SP, Brasil.
authors.forename: Juliana Gabriel R de
authors.initials: JG
authors.lastname: Andrade
authors.forename: Mara Sanches
authors.initials: MS
authors.lastname: Guaragna
authors.forename: Fernanda Caroline
authors.initials: FC
authors.lastname: Soardi
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
authors.forename: Maricilda Palandi de
authors.initials: MP
authors.lastname: Mello
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis; D002648:Child; D017809:Fatal Outcome; D005260:Female; D052159:Frasier Syndrome / Q000175:diagnosis / Q000235:genetics; D016162:Genes, Wilms Tumor; D005835:Genitalia / Q000002:abnormalities / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010641:Phenotype; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D025721:WT1 Proteins