Genes, Vol. 14, Pages 1838: Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

Genes, Vol. 14, Pages 1838: Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus Genes doi: 10.3390/genes14101838 Authors: Carmen González-Atienza Eloísa Sánchez-Cazorla Natalia Villoldo-Fernández Almudena del Hierro Ana Boto Marta Guerrero-Carretero María Nieves-Moreno Natalia Arruti Patricia Rodríguez-Solana Rocío Mena Carmen Rodríguez-Jiménez Irene Rosa-Pérez Juan Carlos Acal Joana Blasco Marta Naranjo-Castresana Beatriz Ruz-Caracuel Victoria E. F. Montaño Cristina Ortega Patrón M. Esther Rubio-Martín Laura García-Fernández Emi Rikeros-Orozco María de Los Ángeles Gómez-Cano Luna Delgado-Mora Susana Noval Elena Vallespín 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 inheritanc...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research