Factor H genotype-phenotype correlations: lessons from aHUS, MPGN II, and AMD.
Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II). The report of Licht et al. of a mutation in the complement-regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition.
Goodship
T H J
TH
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. t.h.j.goodship@ncl.ac.uk
D000818:Animals; D017242:Complement Factor H / Q000235:genetics*; D005838:Genotype; D015432:Glomerulonephritis, Membranoproliferative / Q000235:genetics*; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype
D017242:Complement Factor H