Figure 1.

The RCAN1 p.I162T mutation segegrates with disesase in a family with FSGS. (A) Pedigree of European family 40030 with FSGS and the RCAN1 I162T variant segregating with the disease in the family. Family members that are currently unnaffected but may develop disease later in life are depicted with a question mark. Sequenced individuals are shown with a chromatogram and associated amino acid sequence (L=Leucine, I= Isoleucine, T= Threonine, S=Serine). Asterisk indicates obligate carrier. (B–E) Kidney histology from individual 10557 in family 40030. (B and C) FSGS on hematoxylin and eosin staining at (red arrow). (D) Mild foot process effacement (red arrows) and thinned glomerular basement membrane. (E) Capillary loop double contour formation (red arrows) on silver staining. Original magnification, ×20 in (B), ×40 in (C) and (D).