Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

ABSTRACT:

Introduction

In pediatric patients, monogenic causes are a significant contributor to kidney disease, ranging from approximately 10% in congenital anomalies of the kidney and urinary tract (CAKUT) to about 55% in renal ciliopathies. Exome sequencing has revealed numerous disease-causing genes and pathogenic variants. Nevertheless, continuous efforts are crucial to expand the knowledge base of these variants to establish unequivocal diagnoses. In this study, we report exome sequencing data from a single Saudi Arabian center, aiming to explore potential founder effects and determine specific genotype-phenotype correlations based on clinical diagnoses and genetic ancestry.

Methods

We consolidated 487 families with glomerular disease, CAKUT, cystic kidney disease, stone disease,

SUBMITTER: Lemberg K 

PROVIDER: S-EPMC12545823 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature