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Genes 2017, 8(8), 194;

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency

Centro Nacional de Genética Médica-ANLIS, Avenida Las Heras 2670 3er piso, Ciudad Autónoma de Buenos Aires C1425ASQ, Argentina
Instituto de Biología y Medicina Experimental (IByME)-CONICET, Vuelta de Obligado 2490 Ciudad Autónoma de Buenos Aires C1428ADN, Argentina
Instituto de Química-Física de los Materiales, Medio Ambiente y Energía, CONICET, and Departamento de Química Inorgánica, Analítica y Química Física, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires C1428EGA, Argentina
División de Endocrinología, Hospital de Agudos Carlos G. Durand. Avenida Díaz Vélez 5044, Ciudad Autónoma de Buenos Aires C1405DCS, Argentina
Current address: Vincent Center for Reproductive Biology, Vincent Department of Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Current address: Departamento de Medicina Interna, Instituto de Oncología Alexander Fleming, Avda. Cramer 1180, Ciudad Autónoma de Buenos Aires C1426ANZ, Argentina.
Author to whom correspondence should be addressed.
Academic Editor: Daniel H. Geschwind
Received: 21 May 2017 / Revised: 19 July 2017 / Accepted: 26 July 2017 / Published: 16 August 2017
(This article belongs to the Section Human Genomics and Genetic Diseases)
Full-Text   |   PDF [776 KB, uploaded 16 August 2017]   |  


The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5’UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI. We studied 133 patients and 84 controls. Fluorescent PCR was performed, and the FMR2 exon 1 was further sequenced in samples presenting less than 11 repeats. We found the frequency of FMR1 premutations to be 6.7% and 2.9% for familial and sporadic patients, respectively. Among controls, 1/84 women presented a premutation. In addition, although we did not find microdeletions in FMR2, we observed a change (T >C) adjacent to the repeats in two sisters with POI. Given the repetitive nature of the sequence involved, we could not ascertain whether this represents a single nucleotide polymorphism (SNP) or a deletion. Therefore, a relationship between FMR2 and POI could not be established for our population. View Full-Text
Keywords: primary ovarian insufficiency; FXPOI; FMR1 premutation; FMR2 microdeletions; premature menopause primary ovarian insufficiency; FXPOI; FMR1 premutation; FMR2 microdeletions; premature menopause

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Espeche, L.D.; Chiauzzi, V.; Ferder, I.; Arrar, M.; Solari, A.P.; Bruque, C.D.; Delea, M.; Belli, S.; Fernández, C.S.; Buzzalino, N.D.; Charreau, E.H.; Dain, L.B. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. Genes 2017, 8, 194.

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