The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
- Crisponi L
- Deiana M
- Loi A
- Chiappe F
- Uda M
- Amati P
- Bisceglia L
- Zelante L
- Nagaraja R
- Porcu S
- Serafina Ristaldi M
- Marzella R
- Nicolino M
- Lienhardt Roussie A
- Nivelon A
- Verloes A
- Schlessinger D
- Gasparini P
- Bonneau D
- Cao A
- Pilia G.
- ROCCHI, Mariano
DOIAbstract
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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