Sporadic and familial blepharophimosis-ptosis-epicanthus inversus syndrome:: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

被引：26

作者：

Dollfus, H

Stoetzel, C

Riehm, S

Boukoffa, WL

Boulaneb, FB

Quillet, R

Abu-Eid, M

Speeg-Schatz, C

Francfort, JJ

Flament, J

Veillon, F

Perrin-Schmitt, F

机构：

[1] Hop Univ Strasbourg, Fac Med, CNRS, INSERM,U184,LGME, Strasbourg, France

[2] Hop Univ Strasbourg, Clin Ophtalmol, Strasbourg, France

[3] Hop Univ Strasbourg, Dept Radiol, Strasbourg, France

[4] CHU IBN, Clin Champs Mars, Annaba, Algeria

来源：

CLINICAL GENETICS | 2003年 / 63卷 / 02期

关键词：

blepharophimosis-ptosis-epicanthus inversus syndrome; BPES; FOXL2; superior levator muscle; eye-lid;

D O I：

10.1034/j.1399-0004.2003.00011.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle.

引用

页码：117 / 120

页数：4

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