Table 2.

Mutation screening of the genes encoding complement factor H, membrane cofactor protein, complement factor I, complement factor B, complement components C3, and thrombomodulin and measurement of the copy number of the genes encoding complement factor H–related proteins 1, 3, and 4

Patient IDCFHCD46CFICFBC3THBDCFHR1 Copy NumberCFHR3 Copy NumberCFHR4 Copy Number
1c.3468dupAnmdc.1657 C>T; p.Pro553Sernmdnmdnmd222
2c.2018G>A; p.Cys673Tyrnmdnmdnmdnmdnmd222
3nmdnmdnmdnmdnmdnmd222
  • CFH, complement factor H; CD46, membrane cofactor protein; CFI, complement factor I; CFB, complement factor B; C3, complement component C3; THBD, thrombomodulin; CFHR1, 3, and 4; complement factor H–related proteins 1, 3, and 4; nmd, no mutation detected.