FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

被引：44

作者：

Meduri, Geri ^{[2
,3
]}

Bachelot, Anne ^{[1
,4
]}

Duflos, Catherine ^{[1
,5
,6
]}

Bstaendig, Bettina ^{[7
]}

Poirot, Catherine ^{[8
]}

Genestie, Catherine ^{[9
]}

Veitia, Reiner ^{[10
]}

De Baere, Elfride ^{[11
]}

Touraine, Philippe ^{[1
,4
]}

机构：

[1] Univ Paris 06, AP HP, Grp Hosp Pitie Salpetriere, Dept Endocrinol & Reprod Med,Ctr Reference Malad, F-75013 Paris, France

[2] Hop Bicetre, INSERM, Unite Rech, U693, F-94275 Le Kremlin Bicetre, France

[3] Hop Bicetre, AP HP, Lab Genet Mol, F-94275 Le Kremlin Bicetre, France

[4] INSERM, Fac Med Rene Descartes, U845, F-75015 Paris, France

[5] Hop Necker Enfants Malad, APHP, Dept Pediat Endocrinol, F-75015 Paris, France

[6] Hop Necker Enfants Malad, Ctr Reference Pathol Gynecol Rares, F-75015 Paris, France

[7] CHU Nice, F-06100 Nice, France

[8] Hop La Pitie Salpetriere, APHP, Reprod Biol Unit, F-75013 Paris, France

[9] Hop La Pitie Salpetriere, APHP, Dept Pathol, F-75013 Paris, France

[10] Univ Paris 07, Equipe 21, Inst Cochin, F-75014 Paris, France

[11] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

来源：

HUMAN REPRODUCTION | 2010年 / 25卷 / 01期

关键词：

FOXL2; hyperandrogenism; ovary; premature ovarian failure; TRANSCRIPTION FACTOR FOXL2; BLEPHAROPHIMOSIS/PTOSIS/EPICANTHUS INVERSUS SYNDROME; FOLLICLE DEVELOPMENT; PROTEIN AGGREGATION; NUDE-MICE; FAILURE; EXPRESSION; GENE; BLEPHAROPHIMOSIS; EVOLUTION;

D O I：

10.1093/humrep/dep355

中图分类号：

R71 [妇产科学];

学科分类号：

100211 [妇产科学];

摘要：

FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF). However, little is known about the molecular mechanisms of FOXL2 actions in the human ovary. We conducted an extensive clinical, hormonal and ovarian histological study in two patients carrying a FOXL2 mutation associated with the typical eyelid malformations and infertility. This observational study was conducted at referral centres for POF. Histological and immunohistological studies were conducted on ovarian biopsies from two women with POF carrying a FOXL2 mutation resulting in putative polyalanine expansions of the protein. Abnormalities similar to those observed in mice with FOXL2 gene inactivation were present in the first patient's ovary, although the ovarian histology of the second patient was apparently normal. Different ovarian phenotypes, follicular defects and distribution of FOXL2 protein were observed in two patients carrying a FOXL2 mutation.

引用

页码：235 / 243

页数：9

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