Table 6.
Mutation screening of CFH, CD46, CFI, CFB, C3, and measurement of CFHR1, CFHR3, and CFHR4 copy number
Patient ID | CFH | CD46 | CFI | CFB | C3 |
Copy number |
||
---|---|---|---|---|---|---|---|---|
CFHR1 | CFHR3 | CFHR4 | ||||||
1 | nmd | nmd | nmd | nmd | nmd | 0 | 0 | 2 |
2 | nmd | nmd | nmd | nmd | c.-3_-2dup | 0 | 0 | 2 |
3 | nmd | nmd | nmd | nmd | nmd | 0 | 1 | 1 |
4 | nmd | nmd | Exon 11, c.1216C>T;p.Arg406Cys | nmd | nmd | 0 | 1 | 1 |
5 | nmd | nmd | nmd | nmd | c.1898A>G;p.Lys633Arg | 0 | 0 | 2 |
6 | nmd | nmd | nmd | nmd | nmd | 2 | 2 | 2 |
7 | nmd | nmd | nmd | nmd | nmd | 2 | 2 | 2 |
8 | nmd | nmd | nmd | nmd | nmd | 0 | 0 | 2 |
9 | nmd | c.718T>C;p. Ser240Pro | nmd | nmd | nmd | 2 | 2 | 2 |
10 | nmd | nmd | nmd | nmd | nmd | 0 | 1 | 1 |
11 | nmd | nmd | nmd | nmd | nmd | 0 | 0 | 2 |
12 | c.2850G>T; p.Gln950His | nmd | nmd | nmd | nmd | 0 | 0 | 2 |
13 | nmd | nmd | nmd | nmd | nmd | 0 | 0 | 2 |
CFHR indicates complement factor H–related; and nmd, no mutation detected.