Research progress on the correlation between premature ovarian failure and abnormal expansion repeat of CGG of the fragile X mental retardation 1

Fragile X syndrome (FXS) is often manifested as a multisystem disorder such as inherited intellectual disabilities and autism. Fragile X mental retardation 1 (FMR1) is an important genetic factor associated with premature ovarian failure (POF). Female with POF still have a certain probability of getting pregnant, and carriers with abnormal expansion repeat of CGG of FMR1 gene more likely occur. It leads to changes in reproductive function and an increased incidence of unexplained recurrent miscarriages in patients with POF. This paper reviewed the studies on premature ovarian failure and abnormal expansion repeat of CGG of FMR1, and provided a theoretical basis for genetic counseling and fertility guidance, so as to reduce birth defects.