Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

ABSTRACT: Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children but are notoriously difficult to diagnose. Whole-exome resequencing facilitates identification of recessive disease genes. However, its utility is impeded by the large number of genetic variants detected. We here overcome this limitation by combining homozygosity mapping with whole-exome resequencing in 10 sib pairs with a nephronophthisis-related ciliopathy, which represents the mos

SUBMITTER: Gee HY 

PROVIDER: S-EPMC3972265 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature