Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

• DOI: 10.1038/sj.ejhg.5201510
• Publication Date: 2005-10-26T16:23:54Z
• Authors: Sarah Ennis; Daniel Ward; Anna Murray
• Keywords: Electrophoresis, Agar Gel; 0301 basic medicine; Age Factors; Middle Aged; Primary Ovarian Insufficiency; Interviews as Topic; Blotting, Southern; Fragile X Mental Retardation Protein; 03 medical and health sciences; 616; Humans; Regression Analysis; Female; Genetic Predisposition to Disease; Menopause; Trinucleotide Repeat Expansion

FMR1 premutations are known to be associated with premature ovarian failure (POF), but the underlying mechanism is unknown. We present evidence for a nonlinear association between menopause age and premutation size suggesting that premutations in the mid-size range are at greatest risk for POF, while larger premutations are at lower risk.