title: 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.
authors.affiliation: LGME du CNRS, U-184 INSERM, Faculté de Médecine, Clinique Ophtalmologique and Département de Radiologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Helene.Dollfus@medecine.u-strasbg.FR
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: C
authors.initials: C
authors.lastname: Stoetzel
authors.forename: S
authors.initials: S
authors.lastname: Riehm
authors.forename: W
authors.initials: W
authors.lastname: Lahlou Boukoffa
authors.forename: F
authors.initials: F
authors.lastname: Bediard Boulaneb
authors.forename: R
authors.initials: R
authors.lastname: Quillet
authors.forename: M
authors.initials: M
authors.lastname: Abu-Eid
authors.forename: C
authors.initials: C
authors.lastname: Speeg-Schatz
authors.forename: J J
authors.initials: JJ
authors.lastname: Francfort
authors.forename: J
authors.initials: J
authors.lastname: Flament
authors.forename: F
authors.initials: F
authors.lastname: Veillon
authors.forename: F
authors.initials: F
authors.lastname: Perrin-Schmitt
mesh_terms: D000328:Adult; D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005152:Facial Muscles / Q000473:pathology*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors