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

被引：763
|
作者：
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 [1 ]
机构：
[1] Univ Cagliari, CNR, Ist Ric Talassemie & Anemie Mediterranee, Cagliari, Italy
[2] Univ Cagliari, Osped Reg Microcitemie, Dipartimento Sci Biomed & Biotecnol, Cagliari, Italy
[3] Ctr Hosp Univ Poitiers, Serv Genet Med, Poitiers, France
[4] Osped CSS, IRCCS, Serv Genet Med, I-71013 San Giovanni Rotondo, Italy
[5] NIA, Genet Lab, Baltimore, MD 21224 USA
[6] Univ Bari, DAPEG, Sezione Genet, Bari, Italy
[7] Hop Debrousse, Serv Endocrinol Pediat, Lyon, France
[8] Ctr Hosp Univ Limoges, Serv Pediat, Limoges, France
[9] Ctr Hosp Univ Dijion, Serv Genet, Dijon, France
[10] Univ Liege, Wallonia Ctr Human Genet, Liege, Belgium
来源：
NATURE GENETICS | 2001年 / 27卷 / 02期
关键词：
D O I：
10.1038/84781
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：159 / 166
页数：8
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