New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

ABSTRACT:

Background

Kidney disease of children markedly affects their health and development. Limited clinical data of early-stage kidney disease render a tremendous challenge for the accurate diagnosis. Trio whole-exome sequencing (Trio-WES) is emerging as a first-line diagnostic strategy in pediatric kidney disease, and shows important implications for the precision medicine strategies of children with kidney disease.

Methods

Trio-WES was performed in 133 Chinese children with kidney disease and their parents. The results for casual variants in genes known to cause kidney disease were analyzed. We further assessed the genetic diagnostic yield and the clinical implications of genetic testing.

Results

An overall diagnostic yield of 52.63% (70/133) was found, and the diagnostic

SUBMITTER: Chen Y 

PROVIDER: S-EPMC10337271 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature