Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

ABSTRACT:

Background

The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.

Methods

We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice.

Results

We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (od

SUBMITTER: Lopez-Rivera E 

PROVIDER: S-EPMC5559731 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature