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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol DSS
Location Xp21.2
HGNC id 3055
Name dosage sensitive sex reversal
Corresponding gene NR0B1
Other symbol(s) SRMX, SRVX, XYDSD
Main clinical features
  • male-to-female sex reversal, with female or ambiguous external genitalia, and in any cases histologic examination of the gonads demonstrating impaired testis formation
    • Genetic determination sex linked
    Function/system disorder sex-genitalia
    Type other
    Gene product
    Name The orphan nuclear receptor NR0B1 encodes the DAX1 protein, which stands for the dosage sensitive sex-reversal (DSS), adrenal hypoplasia congenita (AHC) critical region on the X-chromosome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   DAX1 was initially identified as part of a contiguous gene syndrome
      deletion   of 257kb upstream of NR0B1 resulting possibly in position effect up-regulation
    Remark(s)