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

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

doi:10.1016/j.rbmo.2011.11.017

« Previous Next »Reproductive BioMedicine Online
Volume 24, Issue 3 , Pages 339-341, March 2012

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

Dora Janeth Fonseca
- Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia
- Genética Molecular de Colombia, Departamento de Fertilidad Humana, Bogotá, Colombia
Eliana Garzón
- Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia
Besma Lakhal
- Department of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Rim Braham
- Department of Endocrinology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Diego Ojeda
- Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia
Hatem Elghezal
- Department of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Ali Saâd
- Department of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Carlos Martín Restrepo
- Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia
- Genética Molecular de Colombia, Departamento de Fertilidad Humana, Bogotá, Colombia
Paul Laissue
- Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 N° 63C-69, Bogotá, Colombia
- Genética Molecular de Colombia, Departamento de Fertilidad Humana, Bogotá, Colombia
- Corresponding author.

Received 13 July 2011; received in revised form 17 November 2011; accepted 17 November 2011. published online 05 December 2011.

Declaration: The authors report no financial or commercial conflicts of interest.

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.

Keywords: female infertility, FOXO4, premature ovarian failure

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Professor Paul Laissue attained the Medical Doctor title at the Universidad del Rosario (Bogotá, Colombia). Then, he obtained a Master degree on Human Genetics (Paris 7 University), a Master degree on Physiopathology of Reproduction (Paris 5 University) and a PhD on Human Genetics (Paris 7 University). At present he is the scientific director of the Genetics Unit of the Universidad del Rosario in Bogotá. The aim of his scientific work is related to understand the molecular basis of human infertility and other complex diseases.