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GENATLAS PHENOTYPE
last update : 10-03-2010
Symbol FXPOF
Location Xq27.3
Name premature ovarian failure, fragile X-associated
Other name(s) fragile X-associated primary ovarian insufficiency syndrome FRAXopathy
Corresponding gene FMR1
Other symbol(s) POF, POFX, POF1, FXPOI
Main clinical features
  • fragile X premutations in female carriers appear to be a risk factor for premature ovarian failure (POF), defined as menopause at age less than 40 years
    • Genetic determination
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion     premutation female carrier
    Remark(s) microdeletions in FMR2 may be also a significant cause of premature ovarian failure