TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Por:
Chacon-Camacho O.F., Ordaz-Robles T., Cid-García M.A., Hofmann-Blancas M.E., Ledesma-Gil J., García-Huerta M.M., Prado-Larrea C., Cortés-González V., Lozano-Garza R.I., García-Vega D., Kim J., Khang R., Lee E., Zenteno J.C.
Publicada:
1 ene 2024
Ahead of Print:
1 jun 2024
Resumen:
Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants. © 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Filiaciones:
Chacon-Camacho O.F.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Laboratorio 5 Edificio A-4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de, Mexico City, Mexico
Ordaz-Robles T.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Department of Genetics, Fundación Hospital Nuestra Señora de la Luz, Mexico City, Mexico
Cid-García M.A.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Hofmann-Blancas M.E.:
National Registry of Congenital Glaucoma, Mexico City, Mexico
Ledesma-Gil J.:
Glaucoma Department, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
García-Huerta M.M.:
Head of Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico
Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico
Prado-Larrea C.:
Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico
Cortés-González V.:
Genetics Department, Asociación para Evitar la Ceguera en México, Mexico City, Mexico
Lozano-Garza R.I.:
Ophthalmology Department, Hospital Infantil de México, “Federico Gómez”, Mexico City, Mexico
García-Vega D.:
Department of Ophthalmology, Hospital de Pediatría Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico
Kim J.:
3billion Inc, Seoul, South Korea
Khang R.:
3billion Inc, Seoul, South Korea
Lee E.:
3billion Inc, Seoul, South Korea
Zenteno J.C.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
Rare Diseases Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
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