A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy
Journal of the American Society of Nephrology, 05/25/2012
Malik TH et al. – Here, the authors report an autosomal dominant complement–mediated GN associated with abnormal increases in copy number across the Complement factor H (CFH)–related protein 3 *CFHR3) and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3–1 gene. In addition to identifying an association between these genetic observations and complement–mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.