Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

Bennett, Claire E., Conway, Gerard S., Macpherson, James N., Jacobs, Patricia A. and Murray, Anna (2010) Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Human Reproduction, 25 (5), 1335-1338. (doi:10.1093/humrep/deq058).

Abstract

Background: it is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear.

Methods: we have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35–58 repeats) in a series of 366 women ascertained because of menopause before the age of 40.

Results: we found no significant difference in the incidence of intermediates in cases compared with controls. Thus, we were unable to replicate previous studies showing a positive association, despite a significantly larger sample size.

Conclusions: we therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence

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