DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

F Ozaltin, B Li, A Rauhauser, SW An… - Journal of the …, 2013 - journals.lww.com
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, we
identified two additional DGKE variants in a cohort of 142 unrelated patients diagnosed with …