Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle - Archive ouverte HAL Access content directly
Journal Articles Clinical Genetics Year : 2003

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

Abstract

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.

Dates and versions

hal-04145139 , version 1 (28-06-2023)

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Hélène Dollfus, C. Stoetzel, S. Riehm, W. Lahlou Boukoffa, F. Bediard Boulaneb, et al.. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clinical Genetics, 2003, 63 (2), pp.117-120. ⟨10.1034/j.1399-0004.2003.00011.x⟩. ⟨hal-04145139⟩

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