Article
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
Journal of the American Society of Nephrology : JASN - 1 Feb 2013
Ozaltin Fatih, Li Binghua, Rauhauser Alysha, An Sung-Wan, Soylemezoglu Oguz, Gonul Ipek Isik, Taskiran Ekim Z, Ibsirlioglu Tulin, Korkmaz Emine, Bilginer Yelda, Duzova Ali, Ozen Seza, Topaloglu Rezan, Besbas Nesrin, Ashraf Shazia, Du Yong, Liang Chaoying, Chen Phylip, Lu Dongmei, Vadnagara Komal, Arbuckle Susan, Lewis Deborah, Wakeland Benjamin, Quigg Richard J, Ransom Richard F, Wakeland Edward K, Topham Matthew K, Bazan Nicolas G, Mohan Chandra, Hildebrandt Friedhelm, Bakkaloglu Aysin, Huang Chou-Long, Attanasio Massimo
Abstract excerpt
Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy. Furthermore,...
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