NDLI: Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

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Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Oostra, B. A. Sistermans, E. A. Hundscheid, R. D. Braat, D. D. Smits, A. P. Kiemeney, L. A. Straatman, H. Thomas, C. M.
Description	Country affiliation: Netherlands Author Affiliation: Hundscheid RD ( Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands.)
Abstract	Fragile 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-three of the women (28%) with a PIP had POF, versus only 1 (3.7%) with a MIP (two -tailed Fisher's exact test; P=. 007). Kaplan-Meier analysis of all 148 premutations showed that the age at menopause was significantly lower in the women with a PIP than in the woman with a MIP (Breslow test in Kaplan-Meier analysis; P=.003). Our data strongly suggest that, when POF occurs in fragile X premutation carriers, a considerable proportion of the premutations are inherited paternally (parent-of-origin effect). We hypothesize that this may be owing to a paternal genomic imprinting effect.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	2
Volume Number	66
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2000-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Fragile X Syndrome Genetics Genomic Imprinting Mutation Nerve Tissue Proteins Primary Ovarian Insufficiency Rna-binding Proteins Age Of Onset Fragile X Mental Retardation Protein Genetic Predisposition To Disease Heterozygote Menopause Menstrual Cycle Models, Genetic Odds Ratio Pregnancy Epidemiology Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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