Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

ABSTRACT: Related living kidney donors (LKDs) are at higher risk of end-stage renal disease (ESRD) compared with unrelated LKDs. A genetic panel was developed to screen 115 genes associated with renal diseases. We used this panel to screen six negative controls, four transplant candidates with presumed genetic renal disease and six related LKDs. After removing common variants, pathogenicity was predicted using six algorithms to score genetic variants based on conservation and function. All variants were evaluated in the context of patient phenotype and clinical data. We identified causal variants in three of the four transplant candidates. Two patients with a family history of autosomal dominant polycystic kidney disease segregated variants in PKD1. These findings excluded genetic risk in three of f

SUBMITTER: Thomas CP 

PROVIDER: S-EPMC5297870 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature