The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, F Chiappe, M Uda… - Nature …, 2001 - nature.com
L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, L Zelante, R Nagaraja…
Nature genetics, 2001•nature.comIn 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 …
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 …
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.
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