Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome
Por:
Chacon-Camacho, Oscar F., Barragan-Arevalo, Tania, Villarroel, Camilo E., Almanza-Monterrubio, Monica, Zenteno J.C.
Publicada:
1 ene 2020
Resumen:
Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified. © 2020 Elsevier Masson SAS
Filiaciones:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Estado de México, Mexico
Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico
Department of Strabismus, 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 Valenciana, Dept Genet, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Carrera Med Cirujano, Fac Estudios Super Iztacala, Tlalnepantla, Estado De Mexic, Mexico
Natl Inst Pediat, Dept Human Genet, Mexico City, DF, Mexico
Inst Ophthalmol Conde Valenciana, Dept Strabismus, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City, DF, Mexico
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