Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-03-2011
Symbol FS
Location 11p13
Name Frasier syndrome
Corresponding gene WT1
Main clinical features
  • XY individuals with external genitalia ranging from ambiguous to normal female appearance (male pseudohermaphroditism)
  • focal segmental glomerulosclerosis, nephrotic syndrome
  • gonadoblastoma, some cases of Wilms tumor reported
    • Genetic determination
    Related entries Denys-Drash syndrome (DDS) and WAGR
    Function/system disorder kidney and urinary tract
    sex-genitalia
    Type disease
    Gene product
    Name WT1 zinc finger transcription factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing     heterozygous mutation at the alternative splice site (KTS motif) between the third and fourth zinc finger motifs
    Remark(s) . disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells (PMID: 18271004))