Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations
- Hundscheid, Rubin D.L.
- Sistermans, Erik A.
- Thomas, Chris M.G.
- Braat, Didi D.M.
- Straatman, Huub
- Kiemeney, Lambertus A.L.M.
- Oostra, Ben A.
- Smits, Arie P.T.
DOIAbstract
SummaryFragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in female carriers. The occurrence of POF and age at menopause in women with a paternally inherited fragile X premutation (PIP) were compared to those in women with a maternally inherited fragile X premutation (MIP). We identified 148 women in whom the parental origin of the premutation could be determined. In 109 of these women we were able to establish whether POF had occurred: 82 women had a PIP, and 27 had a MIP. Twenty...
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