Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

• DOI: 10.1038/gim.2013.64
• Publication Date: 2013-05-23T15:21:16Z
• Authors: Anna Murray; Minouk J. Schoemaker; Claire E. Bennett; Sarah Ennis; James N. Macpherson; Michael Jones; Danielle H. Morris; Nick Orr; Alan Ashworth; Patricia A. Jacobs; Anthony J. Swerdlow
• Keywords: FMR1

<h2>Abstract</h2><h3>Purpose</h3> Primary ovarian insufficiency before the age of 40 years affects 1% female population and is characterized by permanent cessation menstruation. Genetic causes include <i>FMR1</i> expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary insufficiency, but these are likely to be biased as compared with cases general population. The mutations early menopause (between ages 45 years) has not been published. <h3>Methods</h3> We studied CGG repeat number more than 2,000 women from Breakthrough Generations Study who underwent 46 years. determined premutation (55–200 repeats) intermediate (45–54 alleles (<i>n</i> = 254) 1,881). <h3>Results</h3> was 2.0% 0.7% menopause, 0.4% controls, corresponding odds ratios 5.4 (95% confidence interval=1.7–17.4; <i>P</i> 0.004) 2.0 interval=0.8–5.1; 0.12) menopause. Combining gave an ratio 2.4 interval=1.02–5.8; 0.04). Intermediate were significant risk factors either or insufficiency. <h3>Conclusion</h3> premutations prevalent previous estimates suggested, they still represent a substantial cause <i>Genet Med</i><b>16</b> 1, 19–24.