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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
CITED2 mutations potentially cause idiopathic premature ovarian failure
Translational Research, Volume 160, No. 5, Year 2012
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Description
Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C>A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. © 2012 Mosby, Inc. All rights reserved.
Authors & Co-Authors
Fonseca, Dora J.
Colombia, Bogota
Universidad Del Rosario
Colombia, Bogota
Genética Molecular de Colombia
Ojeda, Diego
Colombia, Bogota
Universidad Del Rosario
Lakhal, Besma
Tunisia, Sousse
Hopital Farhat Hached Sousse
Braham, Rim
Tunisia, Sousse
Hopital Farhat Hached Sousse
Eggers, Stefanie
Australia, Melbourne
University of Melbourne
Turbitt, Erin
Australia, Melbourne
University of Melbourne
White, S. J.
Australia, Melbourne
University of Melbourne
Grover, Sonia Regina
Australia, Melbourne
University of Melbourne
Warne, Garry
Australia, Melbourne
University of Melbourne
Zacharin, Margaret R.
Australia, Melbourne
University of Melbourne
Nevin Lam, Alexandra
Australia, Melbourne
University of Melbourne
Landolsi, Hanène
Tunisia, Sousse
Hopital Farhat Hached Sousse
Elghèzal, Hatem M.
Tunisia, Sousse
Hopital Farhat Hached Sousse
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Restrepo, Carlos Martín
Colombia, Bogota
Genética Molecular de Colombia
Australia, Melbourne
University of Melbourne
Fellous, Marc
France, Paris
Institut Cochin
France, Paris
Inserm
Sinclair, Andrew H.
Australia, Melbourne
University of Melbourne
Koopman, Peter
Australia, Brisbane
The University of Queensland
Laissue, Paul
Colombia, Bogota
Universidad Del Rosario
Colombia, Bogota
Genética Molecular de Colombia
Statistics
Citations: 19
Authors: 19
Affiliations: 7
Identifiers
Doi:
10.1016/j.trsl.2012.05.006
ISSN:
19315244
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Female