In 1991, NICHD-supported scientists discovered the gene (FMR1) that causes Fragile X syndrome (FXS) on the X chromosome. FXS is the most common form of inherited intellectual and developmental disabilities. More recently, researchers have identified two disorders—FXPOI and Fragile X-associated tremor/ataxia syndrome—that also are associated with changes in the FMR1 gene, but that have features and symptoms vastly different from FXS. Women with FXPOI often experience irregular menstrual periods, early infertility, and premature menopause. They are also at increased risk for heart disease and osteoporosis.
Researchers working for and with support from across the NIH have made significant advances in understanding FXPOI.