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

Autores
Espeche, Lucía Daniela; Chiauzzi, Violeta; Ferder, Ianina; Arrar, Mehrnoosh; Solari, Andrea Paula; Bruque, Carlos David; Delea, Marisol; Belli, Susana; Fernández, Cecilia Soledad; Buzzalino, Noemí Delia; Charreau, Eduardo Hernán; Dain, Liliana
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Chiauzzi, Violeta. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Ferder, Ianina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Arrar, Mehrnoosh. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Química-Física de los Materiales, Medio Ambiente y Energía; Argentina.
Fil: Solari, Andrea Paula. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bruque, Carlos David. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Belli, Susana. Hospital de Agudos Carlos G. Durand. División de Endocrinología; Argentina.
Fil: Fernández, Cecilia Soledad. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Buzzalino, Noemí Delia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Charreau, Eduardo Hernán. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Dain, Liliana Beatriz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
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.
Fuente
Genes 2017; 8(194):1-10
Materia
Menopausia Prematura
Insuficiencia Ovárica Primaria
Polimorfismo de Nucleótido Simple
Nivel de accesibilidad
acceso abierto
Condiciones de uso
Repositorio
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Institución
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
OAI Identificador
oai:sgc.anlis.gob.ar:Publications/123456789/1710
Acceder
id SGCANLIS_8213f8150742b579b0a313f41962101a
oai_identifier_str oai:sgc.anlis.gob.ar:Publications/123456789/1710
network_acronym_str SGCANLIS
repository_id_str a
network_name_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
spelling Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian InsufficiencyEspeche, Lucía DanielaChiauzzi, VioletaFerder, IaninaArrar, MehrnooshSolari, Andrea PaulaBruque, Carlos DavidDelea, MarisolBelli, SusanaFernández, Cecilia SoledadBuzzalino, Noemí DeliaCharreau, Eduardo HernánDain, LilianaMenopausia PrematuraInsuficiencia Ovárica PrimariaPolimorfismo de Nucleótido SimpleFil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Chiauzzi, Violeta. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.Fil: Ferder, Ianina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.Fil: Arrar, Mehrnoosh. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Química-Física de los Materiales, Medio Ambiente y Energía; Argentina.Fil: Solari, Andrea Paula. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Bruque, Carlos David. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Belli, Susana. Hospital de Agudos Carlos G. Durand. División de Endocrinología; Argentina.Fil: Fernández, Cecilia Soledad. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Buzzalino, Noemí Delia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Charreau, Eduardo Hernán. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.Fil: Dain, Liliana Beatriz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.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.MDPI2017-08-16info:ar-repo/semantics/articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdf2073-4425http://sgc.anlis.gob.ar/handle/123456789/171010.3390/genes8080194Genes 2017; 8(194):1-10reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁNinstname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"instacron:ANLISGenesenginfo:eu-repo/semantics/openAccess2025-09-04T11:17:20Zoai:sgc.anlis.gob.ar:Publications/123456789/1710Institucionalhttp://sgc.anlis.gob.ar/Organismo científico-tecnológicoNo correspondehttp://sgc.anlis.gob.ar/oai/biblioteca@anlis.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:a2025-09-04 11:17:21.19Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"false
dc.title.none.fl_str_mv Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
title Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
spellingShingle Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
Espeche, Lucía Daniela
Menopausia Prematura
Insuficiencia Ovárica Primaria
Polimorfismo de Nucleótido Simple
title_short Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
title_full Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
title_fullStr Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
title_full_unstemmed Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
title_sort Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
dc.creator.none.fl_str_mv Espeche, Lucía Daniela
Chiauzzi, Violeta
Ferder, Ianina
Arrar, Mehrnoosh
Solari, Andrea Paula
Bruque, Carlos David
Delea, Marisol
Belli, Susana
Fernández, Cecilia Soledad
Buzzalino, Noemí Delia
Charreau, Eduardo Hernán
Dain, Liliana
author Espeche, Lucía Daniela
author_facet Espeche, Lucía Daniela
Chiauzzi, Violeta
Ferder, Ianina
Arrar, Mehrnoosh
Solari, Andrea Paula
Bruque, Carlos David
Delea, Marisol
Belli, Susana
Fernández, Cecilia Soledad
Buzzalino, Noemí Delia
Charreau, Eduardo Hernán
Dain, Liliana
author_role author
author2 Chiauzzi, Violeta
Ferder, Ianina
Arrar, Mehrnoosh
Solari, Andrea Paula
Bruque, Carlos David
Delea, Marisol
Belli, Susana
Fernández, Cecilia Soledad
Buzzalino, Noemí Delia
Charreau, Eduardo Hernán
Dain, Liliana
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Menopausia Prematura
Insuficiencia Ovárica Primaria
Polimorfismo de Nucleótido Simple
topic Menopausia Prematura
Insuficiencia Ovárica Primaria
Polimorfismo de Nucleótido Simple
dc.description.none.fl_txt_mv Fil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Chiauzzi, Violeta. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Ferder, Ianina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Arrar, Mehrnoosh. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Química-Física de los Materiales, Medio Ambiente y Energía; Argentina.
Fil: Solari, Andrea Paula. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bruque, Carlos David. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Belli, Susana. Hospital de Agudos Carlos G. Durand. División de Endocrinología; Argentina.
Fil: Fernández, Cecilia Soledad. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Buzzalino, Noemí Delia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Charreau, Eduardo Hernán. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental; Argentina.
Fil: Dain, Liliana Beatriz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
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.
description Fil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
publishDate 2017
dc.date.none.fl_str_mv 2017-08-16
dc.type.none.fl_str_mv info:ar-repo/semantics/articulo
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv 2073-4425
http://sgc.anlis.gob.ar/handle/123456789/1710
10.3390/genes8080194
identifier_str_mv 2073-4425
10.3390/genes8080194
url http://sgc.anlis.gob.ar/handle/123456789/1710
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genes
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Genes 2017; 8(194):1-10
reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
reponame_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
collection Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname_str Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron_str ANLIS
institution ANLIS
repository.name.fl_str_mv Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
repository.mail.fl_str_mv biblioteca@anlis.gov.ar
_version_ 1842344421771706368
score 12.623145

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