Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
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.
Dollfus
H
H
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
Stoetzel
C
C
Riehm
S
S
Lahlou Boukoffa
W
W
Bediard Boulaneb
F
F
Quillet
R
R
Abu-Eid
M
M
Speeg-Schatz
C
C
Francfort
J J
JJ
Flament
J
J
Veillon
F
F
Perrin-Schmitt
F
F
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*
D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors