Functional evidence implicating FOXL2 in non syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Paul Laissue (1) , Besma Lakhal (2) , Bérénice A Benayoun (1) , Aurélie Dipietromaria (1) , Rim Braham (3) , Hatem Elghezal (2) , Pascal Philibert (4) , Ali Saâd (2) , Charles Sultan (4) , Marc Fellous (1) , Reiner Veitia (1)

1 UMR_S567 / UMR 8104 - Institut Cochin
2 Department of Cytogenetics and Reproductive Biology
3 Department of Endocrinology
4 Service d'hormonologie du développement et de la reproduction

encodes a transcription factor whose mutations are responsible for the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF).

Mots clés: Endocrinology; Genetics; Clinical genetics

Paul Laissue, Besma Lakhal, Bérénice A Benayoun, Aurélie Dipietromaria, Rim Braham, et al.. Functional evidence implicating FOXL2 in non syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.. Journal of Medical Genetics, 2009, 46 (7), pp.455. ⟨10.1136/jmg.2008.065086⟩. ⟨hal-00552682⟩