Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus
Por:
Chacon-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, Lopez-Moreno, Daniel, Barragan-Arevalo, Tania, Nava-Castaneda, Angel, Rodriguez-Uribe, Genaro, Lieberman, Esther, Rodriguez-Cabrera, Lourdes, Gonzalez-Del Angel, Ariadna, Borbolla A.M., Fernandez-Hernandez, Liliana, Graue-Hernandez, Enrique O., Zenteno J.C.
Publicada:
1 ene 2019
Resumen:
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population. © 2019 Elsevier B.V.
Filiaciones:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Department of Orbit and Oculoplastics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico
Molecular Biology Laboratory, Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico
Department of Ophthalmology, Instituto Nacional de Pediatría, Mexico City, Mexico
Department of Cornea, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Genet, Mexico City, DF, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Orbit & Oculoplast, Mexico City, DF, Mexico
Inst Nacl Pediat, Dept Genet, Mexico City, DF, Mexico
Inst Nacl Pediat, Dept Genet, Mol Biol Lab, Mexico City, DF, Mexico
Inst Nacl Pediat, Dept Ophthalmol, Mexico City, DF, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Cornea, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City, DF, Mexico
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