Here, we describe a family where six members had a novel TRPC6p.R68W (c.202C>T) mutation, two of whom had renal failure from FSGS, and one had proteinuria.
Mutations in the TRPC6 gene that codes for a slit diaphragm-associated, cation-permeable ion channel have been shown recently to co-segregate with hereditary forms of progressive kidney failure.