Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
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.
Bennett
Claire E
CE
Peninsula Medical School, University of Exeter, Exeter EX1 2LU, UK.
Conway
Gerard S
GS
Macpherson
James N
JN
Jacobs
Patricia A
PA
Murray
Anna
A
D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000209:etiology* / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human