Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

ABSTRACT:

Background

Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management, evidence is lacking on the diagnostic yield and clinical utility of WES for pediatric renal transplant recipients.

Methods

To determine the diagnostic yield of WES in pediatric kidney transplant recipients, we recruited 104 patients who had received a transplant at Boston Children's Hospital from 2007 through 2017, performed WES, and analyzed results for likely deleterious variants in approximately 400 genes known to cause CKD.

Results

By WES, we identified a genetic cause of CKD in 34 out of 104 (32.7%) transplant recipien

SUBMITTER: Mann N 

PROVIDER: S-EPMC6362619 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature