CITED2 mutations potentially cause idiopathic premature ovarian failure

Fonseca, Dora Janeth, Ojeda, Diego, Lakhal, Besma, Braham, Rim, Eggers, Stefanie, Turbitt, Erin, White, Stefan, Landolsi, Hanene, Elghezal, Hatem, Saad, Ali, Restrepo, Carlos Martin, Fellous, Marc, Sinclair, Andrew, Koopman, Peter and Laissue, Paul (2012) CITED2 mutations potentially cause idiopathic premature ovarian failure. Translational Research, 160 5: 384-388. doi:10.1016/j.trsl.2012.05.006

Author Fonseca, Dora Janeth
Ojeda, Diego
Lakhal, Besma
Braham, Rim
Eggers, Stefanie
Turbitt, Erin
White, Stefan
Landolsi, Hanene
Elghezal, Hatem
Saad, Ali
Restrepo, Carlos Martin
Fellous, Marc
Sinclair, Andrew
Koopman, Peter
Laissue, Paul
Title CITED2 mutations potentially cause idiopathic premature ovarian failure
Formatted title
CITED2 mutations potentially cause idiopathic premature ovarian failure
Journal name Translational Research   Check publisher's open access policy
ISSN 1931-5244
Publication date 2012-06-16
Sub-type Article (original research)
DOI 10.1016/j.trsl.2012.05.006
Volume 160
Issue 5
Start page 384
End page 388
Total pages 5
Place of publication Philadelphia, PA, United States
Publisher Mosby
Collection year 2013
Language eng
Formatted abstract
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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online ahead of print 16 June 2012.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
Institute for Molecular Bioscience - Publications
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Created: Tue, 21 Aug 2012, 15:33:47 EST by Susan Allen on behalf of Institute for Molecular Bioscience