FRAGILE-X PREMUTATION SCREENING IN WOMEN WITH PREMATURE OVARIAN FAILURE

We have screened 132 women with premature ovarian failure for fragile X (FRAXA) premutations. Three out of 23 (13%) pedigrees with the famil ial premature ovarian failure and 3/106 (3%) of women with the sporadi c form of premature ovarian failure have FRAXA premutations compared w ith an expected prevalence of 1:590 (P = 0.02), The mechanism of the a ssociation between FRAXA premutations and premature ovarian failure is unknown but as a genetic marker, FRAXA screening will be particularly valuable in predicting premature ovarian failure in some pedigrees an d in the identification of families at risk of transmitting fragile X syndrome.