Primary Ovarian Insufficiency_Premature Ovarian Failure
STR: FXPOI
HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
RNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXPOI: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
It is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI.
Sources: Expert listCreated: 11 Dec 2020, 5:49 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Premature ovarian failure 1 MIM#311360
Publications
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: fxpoi has been classified as Green List (High Evidence).
STR: FXPOI was added STR: FXPOI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list 5'UTR tags were added to STR: FXPOI. Mode of inheritance for STR: FXPOI was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: FXPOI were set to 20301558 Phenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360 Review for STR: FXPOI was set to GREEN STR: FXPOI was marked as clinically relevant STR: FXPOI was marked as current diagnostic