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Updated: Jul 12, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

Carmen González-Atienza1, Eloísa Sánchez-Cazorla1, Natalia Villoldo-Fernández2

  • 1Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.

Genes
|October 28, 2023
PubMed

Insights

Pediatric keratoconus, a corneal disease needing transplants, shows oligogenic inheritance. Researchers identified candidate genes in corneal pathways, paving the way for new therapeutic targets.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Keratoconus is a leading cause of corneal transplantation, particularly in children, where it progresses rapidly.
  • Current treatments for keratoconus are insufficient for all patients, highlighting the need for novel therapeutic strategies.
  • The genetic complexity of keratoconus complicates research into its underlying causes.

Purpose of the Study:

  • To investigate the genetic basis of pediatric keratoconus using whole-exome sequencing.
  • To identify potential candidate genes and pathways involved in the development of early-onset keratoconus.
  • To explore the inheritance patterns of keratoconus in pediatric families.

Main Methods:

  • Whole-exome sequencing (WES) was performed on 24 pediatric families with keratoconus.
  • Genetic data analysis focused on identifying inheritance patterns and candidate genes.
  • Candidate genes were evaluated based on their involvement in corneal structure, function, and development.

Main Results:

  • The study revealed an oligogenic inheritance pattern for pediatric keratoconus.
  • Several candidate genes implicated in corneal pathways were identified.
  • Genes related to corneal structure, cell adhesion, and repair were highlighted as potential contributors.

Conclusions:

  • Oligogenic inheritance provides a framework for understanding the genetic architecture of pediatric keratoconus.
  • The identified candidate genes offer promising targets for future research and therapeutic development.
  • Further investigation is required to validate the role of these genes in pediatric keratoconus pathogenesis.

Keywords:
non-syndromic pediatric keratoconusophthalmogeneticswhole-exome sequencing

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