The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi, Francesca Chiappe, Manuela Uda, Patrizia Amati, Luigi Bisceglia, Leopoldo Zelante, Ramaiah Nagaraja, Susanna Porcu, M. Serafina Ristaldi, Rosalia Marzella, Mariano Rocchi, Marc Nicolino, Anne Lienhardt-Roussie, Annie Nivelon, Alain Verloes, David Schlessinger, Paolo Gasparini, Dominique BonneauAntonio Cao, Giuseppe Pilia

Research output: Contribution to journalArticlepeer-review

Abstract

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.

Original languageEnglish
Pages (from-to)159-166
Number of pages8
JournalNature Genetics
Volume27
Issue number2
DOIs
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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