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

Anna Murray | Zendy; Minouk J. Schoemaker | Zendy; Claire E. Bennett | Zendy; Sarah Ennis | Zendy; James Macpherson | Zendy; Michael E. Jones | Zendy; Danielle H. Morris | Zendy; Nick Orr | Zendy; Alan Ashworth | Zendy; Patricia A. Jacobs | Zendy; Anthony J. Swerdlow | Zendy

Open Access

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

Author(s) -

Anna Murray,

Minouk J. Schoemaker,

Claire E. Bennett,

Sarah Ennis,

James Macpherson,

Michael E. Jones,

Danielle H. Morris,

Nick Orr,

Alan Ashworth,

Patricia A. Jacobs,

Anthony J. Swerdlow

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.64

Subject(s) - menopause , medicine , odds ratio , population , confidence interval , fmr1 , gynecology , pediatrics , allele , genetics , biology , environmental health , gene

Primary ovarian insufficiency before the age of 40 years affects 1% of the female population and is characterized by permanent cessation of menstruation. Genetic causes include FMR1 expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary ovarian insufficiency, but these are likely to be biased as compared with cases in the general population. The prevalence of FMR1 expansion mutations in early menopause (between the ages of 40 and 45 years) has not been published.

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