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Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)
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Genes 2016, 7(12), 123;

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain
Department of Medical-Surgical Specialities, Faculty of Medicine, University of the Basque Country, Bilbao, 48940, Spain
Reproduction Bilbao, Bilbao, 48014, Spain
Genetic Counseling and Prenatal Diagnosis Laboratory GENETIC, Bilbao, 48014, Spain
Cooperativa de Ensino Superior Politecnico e Universitario (CESPU), Porto, 4760-409, Portugal
Author to whom correspondence should be addressed.
Academic Editor: Mark Hirst
Received: 5 July 2016 / Revised: 29 November 2016 / Accepted: 30 November 2016 / Published: 13 December 2016
(This article belongs to the Special Issue Fragile X Syndrome)
Full-Text   |   PDF [263 KB, uploaded 13 December 2016]


Menopause is a period of women’s life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI. The FMR1 gene contains a highly polymorphic CGG repeat in the 5′ untranslated region of exon 1. Four allelic forms have been defined with respect to CGG repeat length and instability during transmission. Normal (5–44 CGG) alleles are usually transmitted from parent to offspring in a stable manner. The full mutation form consists of over 200 repeats, which induces hypermethylation of the FMR1 gene promoter and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally, FMR1 intermediate (45–54 CGG) and premutation (55–200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI). View Full-Text
Keywords: FMR1; POI; menopause FMR1; POI; menopause
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Barasoain, M.; Barrenetxea, G.; Huerta, I.; Télez, M.; Criado, B.; Arrieta, I. Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene. Genes 2016, 7, 123.

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