Screening for mutations of the FOXO4 gene in premature ovarian failure patients

Dora Janeth Fonseca; Eliana Garzón; Besma Lakhal; Rim Braham; Diego Ojeda; Hatem Elghezal; Ali Saâd; Carlos Martín Restrepo; Paul Laissue

doi:10.1016/j.rbmo.2011.11.017

Screening for mutations of the FOXO4 gene in premature ovarian failure patients

Título traducido de la contribución: Detección de mutaciones del gen FOXO4 en pacientes con fallo ovárico prematuro

Dora Janeth Fonseca
, Eliana Garzón
, Besma Lakhal
, Rim Braham
, Diego Ojeda
, Hatem Elghezal
, Ali Saâd
, Carlos Martín Restrepo
, Paul Laissue

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

6 Citas (Scopus)

Resumen

FOXO4 constituye un gen candidato coherente asociado a la patogénesis del fallo ovárico prematuro (POF). En este estudio se secuenciaron las regiones codificantes y de flanqueo de exones de este gen en un panel de 116 pacientes con POF y 143 controles de origen tunecino. En ambos grupos se identificó la variante de secuencia IVS2 + 41T > G. Se concluye que las mutaciones codificantes de FOXO4 no deberían ser una causa común de la enfermedad en las mujeres de la población tunecina. Sin embargo, este estudio no puede excluir que las disfunciones de FOXO4, originadas por variaciones del marco de lectura abierto o de la secuencia promotora, puedan estar asociadas con la patogénesis de la enfermedad en otros grupos étnicos.

Título traducido de la contribución	Detección de mutaciones del gen FOXO4 en pacientes con fallo ovárico prematuro
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	339-341
Número de páginas	3
Publicación	Reproductive BioMedicine Online
Volumen	24
N.º	3
DOI	https://doi.org/10.1016/j.rbmo.2011.11.017
Estado	Publicada - mar 1 2012

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

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Genética (clínica)

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title = "Screening for mutations of the FOXO4 gene in premature ovarian failure patients",

abstract = "FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups. {\textcopyright} 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.",

author = "Fonseca, \{Dora Janeth\} and Eliana Garz{\'o}n and Besma Lakhal and Rim Braham and Diego Ojeda and Hatem Elghezal and Ali Sa{\^a}d and Restrepo, \{Carlos Mart{\'i}n\} and Paul Laissue",

year = "2012",

month = mar,

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doi = "10.1016/j.rbmo.2011.11.017",

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T1 - Screening for mutations of the FOXO4 gene in premature ovarian failure patients

AU - Fonseca, Dora Janeth

AU - Garzón, Eliana

AU - Lakhal, Besma

AU - Braham, Rim

AU - Ojeda, Diego

AU - Elghezal, Hatem

AU - Saâd, Ali

AU - Restrepo, Carlos Martín

AU - Laissue, Paul

PY - 2012/3/1

Y1 - 2012/3/1

N2 - FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups. © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

AB - FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups. © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

U2 - 10.1016/j.rbmo.2011.11.017

DO - 10.1016/j.rbmo.2011.11.017

M3 - Research Article

C2 - 22285440

SN - 1472-6483

VL - 24

SP - 339

EP - 341

JO - Reproductive BioMedicine Online

JF - Reproductive BioMedicine Online

IS - 3

ER -

Screening for mutations of the FOXO4 gene in premature ovarian failure patients

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