Table 2

Novel factor H gene mutations identified in the new registry

Case no/ageMutation (cDNA nucleotide)*ExonConsequence (amino acid)*SCRC3 (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
1/311963 T/G***14630 Cys→Trp110.876774Sporadic. Father carrier
2/252214 C/G***15714 Ser→Stop120.562619Sporadic. Mother carrier
3/242621 G/A***17850 Glu→Lys142.0927Sporadic
4/223007 G/T***19978 Trp→Cys160.754703Sibling HUS. Mother and grandmother carriers
5/333200 T/C***201043 Cys→Arg170.748560Sporadic
6/263299 C/G211076 Gln→Glu181.82511Sporadic. Father carrier
7/23474 T/G***221134 Val to Gly190.835835Sporadic. Mother carrier
8/373497 T/G***221142 Tyr to sp190.4251007Sporadic
9/283542 T/C***221157 rP→Arg190.508894Sporadic
10/183566+1 G/A***22Splice defect190.729826Sporadic
11/13620 C/T231183 Trp→ Arg200.890619Familial. Paternal cousin and second-degree aunt on dialysis
12/133701 C/T231210 Arg→Cys201,250580Sporadic
13/403719 delACA***231216 del Thr200.368534Sporadic
14/333749 C/T***231226 Pro→Ser201.0201300Sporadic
15/593768–71 delAGAA***23Frameshift200.540503Sporadic
Case with two mutations
16/393135 A/T*** and 3701 C/T201021 Lyr→Phe170.749787Sporadic. Carriers: father, 3135A/T mother 3701C/T
231210 Arg→Cys20