Abstract:Women carrying a pre-mutation or mutation of the Fragile X mental retardation gene (FMR1) comprise the largest portion of premature ovarian failure (POF) cases due to known genetic factors. FMR1 mutation causes Fragile X syndrome, the most common cause of inherited mental impairment. The mutation inhibits the expression of the fragile X mental retardation protein (FMRP), a ubiquitously expressed mRNA binding protein. The specific molecular mechanism(s) leading to premature ovarian failure in Fragile X carriers… Show more
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