title: Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
abstract: Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female. It is invariably characterized by 4 major features: (1) bilaterally shortened horizontal palpebral fissure (blepharophimosis); (2) severe impairment of the superior palpebral levator (ptosis); (3) a vertical skin fold arising from the lower eyelid, which inserts medially in the upper lid (epicanthus inversus) and (4) an increased inner can-thal distance with a normal outer canthal distance (telecanthus). The mutations causing this disorder are found in the FOXL2 gene, a forkhead transcription factor, located in 3q23. Although many patients with blepharophimosis-ptosis-epicanthus inversus syndrome have an affected parent, a conspicuous number of sporadic cases also have been reported. We describe here a sporadic case with a mutation in the FOXL2 gene that was well characterized both clinically and molecularly.
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Daniela
authors.initials: D
authors.lastname: Giachino
authors.forename: Lucia
authors.initials: L
authors.lastname: Russo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pilia
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Elisa
authors.initials: E
authors.lastname: Scala
authors.forename: Francesca
authors.initials: F
authors.lastname: Chiappe
authors.forename: Katia
authors.initials: K
authors.lastname: Sampieri
authors.forename: Aldo
authors.initials: A
authors.lastname: Caporossi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Giacomo
authors.initials: G
authors.lastname: Lasorella
mesh_terms: D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D004247:DNA