| First Author | Crisponi L | Year | 2001 |
| Journal | Nat Genet | Volume | 27 |
| Issue | 2 | Pages | 159-66 |
| PubMed ID | 11175783 | Mgi Jnum | J:225414 |
| Mgi Id | MGI:5693236 | Doi | 10.1038/84781 |
| Citation | Crisponi L, et al. (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27(2):159-66 |
| abstractText | 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. |
