Intronic variants of the MYH9 gene that encodes the nonmuscle myosin heavy chain IIA are
associated with diabetic nephropathy in European Americans and with sickle cell disease–
associated nephropathy. However, the causal functional variants of MYH9 have remained
elusive. Rare missense mutations in MYH9 cause macrothrombocytopenia and are
occasionally associated with development of nephropathy. The E1841K mutation is among
the common MYH9 missense mutations and has been associated with nephropathy in some …