Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1

Abstract

Our data suggest that FMR1 expression during human folliculogenesis is probably a quantitative trait. Proper function of FMRP in granulosa cells seems to depend on an optimal transcript level. All women with CGG triplet numbers outside the range associated with normal folliculogenesis (26 < n > 34) are therefore expected to have a relaxed FMR1 transcription control. FMR1 transcript levels in leukocytes might therefore be diagnostic for altered FMRP levels in granulosa cells, which will affect the process of folliculogenesis.