Open AccessRecessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice
Author(s) -
Tomoko Takano,
Eric Bareke,
Naoki Takeda,
Lamine Aoudjit,
Cindy Baldwin,
Philip Pisano,
Jun Matsuda,
Jasmine El Andalousi,
Lina Muhtadie,
Chantal Bernard,
Jacek Majewski,
Toru Miyazaki,
Kenichi Yamamura,
Indra R. Gupta
Publication year - 2018
Publication title -
kidney international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.499
H-Index - 276
eISSN - 1523-1755
pISSN - 0085-2538
DOI - 10.1016/j.kint.2018.08.014
Subject(s) - focal segmental glomerulosclerosis , frameshift mutation , mutation , exome sequencing , medicine , minimal change disease , glomerulosclerosis , genetics , biology , kidney , gene , glomerulonephritis , proteinuria
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.
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