Importantly, although FMR1 CGG repeats are implicated in both FX syndrome (FXS) and FXPOI, the mechanisms of disease are very different.
Two predominant disease models have been proposed to explain FXPOI.
Conclusive diagnosis of FXPOI requires confirmation of increased serum FSH concentrations and detection of 55-200 CGG repeats in the 5' UTR of FMR1.
1] Nonstandard abbreviations: FM, full mutation; PM, premutation; FXS, fragile X syndrome; FXPOI
, fragile X-associated primary ovarian insufficiency; FXTAS, fragile X-associated tremor/ataxia syndrome; MCA, melting curve analysis; msTP-PCR, methylation-specific triplet-primed PCR; GZ, gray zone; TT, threshold temperature; NL, normal; uTP-PCR, unmethylated allele triplet-primed PCR; mTP-PCR, methylated allele triplet-primed PCR.