Related Experiment Video
Updated: Jan 31, 2026

Full-Endoscopic Interlaminar Approach for Decompression of Lateral Recess Stenosis
Published on: February 24, 2023
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice
Tomoko Takano1, Eric Bareke2, Naoki Takeda3
1Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.
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.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Mutation, Gene Flow, and Genetic Drift
Mutations in Microorganisms
Point and Frameshift Mutations

