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.

Autor: Chacón-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Salgado-Medina A; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Alcaraz-Lares N; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., López-Moreno D; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Barragán-Arévalo T; Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Nava-Castañeda A; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Rodríguez-Uribe G; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Lieberman E; Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Rodríguez-Cabrera L; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., González-Del Angel A; Molecular Biology Laboratory, Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Borbolla AM; Department of Ophthalmology, Instituto Nacional de Pediatría, Mexico City, Mexico., Fernández-Hernández L; Molecular Biology Laboratory, Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Graue-Hernández EO; Department of Cornea, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address: jczenteno@institutodeoftalmologia.org.
Jazyk: angličtina
Zdroj: Gene [Gene] 2019 Jul 20; Vol. 706, pp. 62-68. Date of Electronic Publication: 2019 Apr 29.
DOI: 10.1016/j.gene.2019.04.073
Abstrakt: 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.
(Copyright © 2019 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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