Genes · 2023
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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González-Atienza Carmen, Sánchez-Cazorla Eloísa, Villoldo-Fernández Natalia, Del Hierro Almudena, Boto Ana, Guerrero-Carretero Marta, Nieves-Moreno María, Arruti Natalia, Rodríguez-Solana Patricia, Mena Rocío, Rodríguez-Jiménez Carmen, Rosa-Pérez Irene, Acal Juan Carlos, Blasco Joana, Naranjo-Castresana Marta, Ruz-Caracuel Beatriz, Montaño Victoria E F, Ortega Patrón Cristina, Rubio-Martín M Esther, García-Fernández Laura, Rikeros-Orozco Emi, Gómez-Cano María de Los Ángeles, Delgado-Mora Luna, Noval Susana, Vallespín Elena
Аннотация
Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all patients. The presentation of this disease in pediatric age is associated with rapid progression, a worse prognosis and, in 15-20% of cases, the need for corneal transplantation. It is a multifactorial disease with genetic variability, which makes its genetic study difficult. Discovering new therapeutic targets is necessary to improve the quality of life of patients. In this manuscript, we present the results of whole-exome sequencing (WES) of 24 pediatric families diagnosed at the University Hospital La Paz (HULP) in Madrid. The results show an oligogenic inheritance of the disease. Genes involved in the structure, function, cell adhesion, development and repair pathways of the cornea are proposed as candidate genes for the disease. Further studies are needed to confirm the involvement of the candidate genes described in this article in the development of pediatric keratoconus.