Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.

ABSTRACT:

Background

Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility.

Methods

To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17.

Results

The screening procedure identified 134 individuals from 112 families with PVUR; two families with mutations in ROBO2 were excluded from further analysis. Rare missense variants in TN

SUBMITTER: Elahi S 

PROVIDER: S-EPMC4747108 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature