Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
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.
Mari
Francesca
F
Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy.
Giachino
Daniela
D
Russo
Lucia
L
Pilia
Giuseppe
G
Ariani
Francesca
F
Scala
Elisa
E
Chiappe
Francesca
F
Sampieri
Katia
K
Caporossi
Aldo
A
Renieri
Alessandra
A
Lasorella
Giacomo
G
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
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D004247:DNA