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: Carmen Gonz ález-Atienza Elo ísa Sánchez-Cazorla Natalia Villoldo-Fern ández Almudena del Hierro Ana Boto Marta Guerrero-Carretero Mar ía Nieves-Moreno Natalia Arruti Patricia Rodr íguez-Solana Roc ío Mena Carmen Rodr íguez-Jiménez Irene Rosa-P Tags: Article Source Type: research
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