Heterozygous laminin β2 mutation in C3 glomerulopathy.

Abstract

C3 glomerulopathy is usually seen with the presence of C3 nephritic factor, homozygous or heterozygous mutations in the regulatory complement proteins factor H, factor I, or C3. We describe the presence of heterozygous laminin β2 mutation in a patient of C3 glomerulonephritis with ocular and central nervous system involvement, the significance of which is unknown.