Premature ovarian failure and FMR1 gene mutations: an update

Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. The identification of an index case should therefore trigger genetic counseling throughout the pedigree according to the wishes of the family.