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 familialpremature ovarian failure and 3/106 (3%) of women with the sporadic form ofpremature ovarian failure have FRAXA premutations compared with an expectedprevalence of 1:590 (P=0.02). The mechanism of the association betweenFRAXA premutations and premature ovarian failure is unknown but as agenetic marker, FRAXA screening will be particularly valuable in predictingpremature ovarian failure in some pedigrees and in the identification offamilies at risk of transmitting fragile X syndrome.