Genes (Sep 2023)
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
- 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
Affiliations
- Carmen González-Atienza
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Eloísa Sánchez-Cazorla
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Natalia Villoldo-Fernández
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Almudena del Hierro
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Ana Boto
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Marta Guerrero-Carretero
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- María Nieves-Moreno
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Natalia Arruti
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Patricia Rodríguez-Solana
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Rocío Mena
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Carmen Rodríguez-Jiménez
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Irene Rosa-Pérez
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Juan Carlos Acal
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Joana Blasco
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Marta Naranjo-Castresana
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Beatriz Ruz-Caracuel
- Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain
- Victoria E. F. Montaño
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Cristina Ortega Patrón
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- M. Esther Rubio-Martín
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Laura García-Fernández
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Emi Rikeros-Orozco
- Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain
- María de Los Ángeles Gómez-Cano
- Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain
- Luna Delgado-Mora
- Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain
- Susana Noval
- Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- Elena Vallespín
- Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain
- DOI
- https://doi.org/10.3390/genes14101838
- Journal volume & issue
-
Vol. 14,
no. 10
p. 1838
Abstract
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.
Keywords