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

Authors: Crisponi, L  Deiana, M  Loi, A  Chiappe, F  Uda, M  Amati, P  Bisceglia, L  Zelante, L  Nagaraja, R  Porcu, S  Ristaldi, MS  Marzella, R  Rocchi, M  Nicolino, M  Lienhardt-Roussie, A  Nivelon, A  Verloes, A  Schlessinger, D  Gasparini, P  Bonneau, D  Cao, A  Pilia, G 
Citation: Crisponi L, etal., Nat Genet. 2001 Feb;27(2):159-66.
Pubmed: (View Article at PubMed) PMID:11175783
DOI: Full-text: DOI:10.1038/84781

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.


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CRRD Object Information
CRRD ID: 1598958
Created: 2007-01-08
Species: All species
Last Modified: 2007-01-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.