Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30612599.
- Also identified by DOI 10.1016/j.kint.2018.08.014.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Although sequence variants in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS), definitive proof of causality in human disease is meager. By whole-exome sequencing, we identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. These results provide conclusive evidence that homozygous mutation of CD2AP causes FSGS in humans.
Medical subject headings
- Adaptor Proteins, Signal Transducing
- Cytoskeletal Proteins
- Glomerulosclerosis, Focal Segmental
- Kidney Failure, Chronic