EPOS

European Paediatric Ophthalmological Society

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FOXL2 and TWIST mutations in families with developmental anomalies of the eyelids

Dollfus H, Riehm Sophie, Boukoffa Francis, Veillon Francis, Flament Jacques, Perrin-Schmitt Fabienne
¹LGME, facult, ²Department of radiology, H, ³Department of Ophthalmology, Anaba, Algeria, ⁴LGME, IGBMC, Facult, ⁵Service d'Ophtalmologie, H

Blepharophimosis-Ptosis-Epicanthus Syndrome (BPES) is an autosomal dominant condition for which two loci were described: 3q22 for BPES I and II (type I is characterized by female infertility as opposed to BPES type II) and 7p21 for BPES II. We recently invalidated the 7p21locus as a BPES type II locus as the unique linked family has a TWIST mutation (Q28X stop). Mutations in TWIST are well described for a craniostenosis syndrome (Saethre Chotzen syndrome). We showed in this family a low penetrance of the craniostenosis features as opposed to prominent eyelid features resembling BPES. Mutations in the FOXL2 gene (3q22) have been described in families with BPES (I and II) (Crisponi et al, 2001). A large family from Strasbourg with BPES type I was investigated as well as two sporadic cases and a family from Algeria. The mutations found, for all of the cases, were studied according to the genotype phenotype correlation study of De Baere in 2001. Moreover, we performed Magnetic Resonance Imaging of the extra ocular muscles demonstrating the absence or hypoplasia of the levator superior muscle pointed to the major role of FOXL2 in the development of this muscle.