Table 3.

Genetic analysis

Patienta	Rare genetic variant	Copies of CFHR1	Copies of CFHR3	Copies of CFHR4
2	NMD	0	0	2
4b	CFI c.1216C>T p.(Arg406Cys)	0	1	1
5b	C3 c.1898A>G p.(Lys633Arg)	0	0	2
6b	NMD	2	2	2
10	CFI c.1534+5G>T	0	1	1
12b	CFH c.2850G>T p.(Gln950His)	0	0	2
14	CFI c.1456T>C p.(Trp486Arg)c	0	0	2
15	NMD	0	0	2
16	CFI c.859G>A p.(Gly287Arg)	0	0	2
17	CD46 c.919A>C p.(Thr307Pro)	0	0	2
18	NMD	0	0	2
19c	NMD	2	2	2
20	NMD	0	1	1
21	NMD	0	0	2
22c	NMD	2	2	2
23	NMD	0	0	2
24	NMD	0	0	2

NMD, no mutation detected.

Rare genetic variants (defined as observed frequency of <1%, and resulting in a nonsynonymous amino acid substitution or potentially affecting a splice site) identified following mutation screening of the CFH, CD46, CFI, CFB, C3 and DGKE genes, and number of copies of CFHR1, CFHR3 and CFHR4 as determined by MPLA analysis.

^aIdentification numbers for patients 2, 4, 5, 6, 10, and 12 correspond to those in a previous publication.⁹

^bHomozygous variant (all other variants are heterozygous).

^cIndicates patients in whom established renal failure developed.