Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.

ABSTRACT: Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic drivers has proven to be difficult. Here we studied the role of rare copy number variations in 80 patients from the KIMONO study cohort for which pathogenic mutations in three genes commonly implicated in CAKUT were excluded. In total, 13 known or novel genomic imbalances in 11 of 80 patients were absent or extremely rare in 23,362 population controls. To identify the most likely genetic drivers for the CAKUT phenotype underlying these rare copy number variations, we used a systematic in silico ap

SUBMITTER: Westland R 

PROVIDER: S-EPMC4834924 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature