Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

The article focuses on a study which attempted to establish the genetic basis for a familial disorder of complement regulation associated with persistent microscopic haematuria, recurrent macroscopic haematuria, glomerulonephritis and progressive renal failure. Through a genome-wide linkage study and candidate gene analysis, a mutation was identified. The cosegregation of the occurrence of familial disease with the same mutation in the complement factor H-related protein gene is also observed.