Table 2

Novel factor H gene mutations identified in the new registry

Case no/age	Mutation (cDNA nucleotide)*	Exon	Consequence (amino acid)*	SCR	C3 (0.65–1.85 g/l)**	Factor (235–810 mg/l)**	Family
Numbering according to25 ; normal range for C3 and Factor H serum concentrations (mean plus/minus 2SD of the control series of 100 probands ); **the mutation is novel.
Cases with one mutation
1/31	1963 T/G***	14	630 Cys→Trp	11	0.876	774	Sporadic. Father carrier
2/25	2214 C/G***	15	714 Ser→Stop	12	0.562	619	Sporadic. Mother carrier
3/24	2621 G/A***	17	850 Glu→Lys	14	2.0	927	Sporadic
4/22	3007 G/T***	19	978 Trp→Cys	16	0.754	703	Sibling HUS. Mother and grandmother carriers
5/33	3200 T/C***	20	1043 Cys→Arg	17	0.748	560	Sporadic
6/26	3299 C/G	21	1076 Gln→Glu	18	1.82	511	Sporadic. Father carrier
7/2	3474 T/G***	22	1134 Val to Gly	19	0.835	835	Sporadic. Mother carrier
8/37	3497 T/G***	22	1142 Tyr to sp	19	0.425	1007	Sporadic
9/28	3542 T/C***	22	1157 rP→Arg	19	0.508	894	Sporadic
10/18	3566+1 G/A***	22	Splice defect	19	0.729	826	Sporadic
11/1	3620 C/T	23	1183 Trp→ Arg	20	0.890	619	Familial. Paternal cousin and second-degree aunt on dialysis
12/13	3701 C/T	23	1210 Arg→Cys	20	1,250	580	Sporadic
13/40	3719 delACA***	23	1216 del Thr	20	0.368	534	Sporadic
14/33	3749 C/T***	23	1226 Pro→Ser	20	1.020	1300	Sporadic
15/59	3768–71 delAGAA***	23	Frameshift	20	0.540	503	Sporadic
Case with two mutations
16/39	3135 A/T*** and 3701 C/T	20	1021 Lyr→Phe	17	0.749	787	Sporadic. Carriers: father, 3135A/T mother 3701C/T
		23	1210 Arg→Cys	20