Table 1: Reported gene mutations and risk haplotypes in aHUS pedigrees#.

AuthorYearPopulationSize/carrier/affectedGene: variant or haplotypeRisk genotypePenetrance rateSNP rs IDMAF

Warwicker et al. [28]199851/3/11*CFH: c.3716C>G (p.R1197G)C/Grs121913051
CFH: c.145_148delAGAAhet
Ying et al. [31]1999Bedouin-Arab55/?/11**CFH: c.3645C>T (p.S1191L)T/Trs46089729.35%
Richards et al. [40]2003Belgian8/0/3MCP: p.237_238delDShet100.0%
German4/1/2MCP: c.822T>C (p.S206P)T/C66.7%rs121909589
Turkish4/2/2MCP: c.822T>C (p.S206P)C/C50.0%rs121909589
Caprioli et al. [30]200313/1/2CFH: c.1494_1496delAAAhet66.7%
5/1/2CFH: c.3620T>A (p.Y1183R)T/A66.7%
10/5/2CFH: c.3654G>A (p.G1194D)G/A28.6%
6/1/3CFH: c.3701C>T (p.R1210C)C/T75.0%rs1219130590.02%
37/?/10*CFH: c.3579A>TA/T
CFH: a 24-bp deletion in SCR20het
9/2/3CFH: c.3717G>A (p.R1215Q)G/A60.0%
Noris et al. [41]2003White4/1/2MCP: c.843_844delAChet66.7%
Frémeaux-Bacchi et al. [42]2006White5/0/3MCP: p.G162Rhet100.0%
4/0/2*MCP: p.Y155Dhet100.0%
MCP: c.IVS7-2A>Ghet100.0%
Esparza-Gordillo et al. [43]2006Spanish24/11/2*MCP: c.598C>T(p. P165S)C/T28.6%
MCP: MCPggaac***het33.3%
CFI: c.1610insAT(p.T538X)het28.6%
Caprioli et al. [7]2006Sardinian8/4/3*MCP: D1S2735, D1S2796, IVS1-1G>C, ExV(SCR3), Ex XII, D1S26922,1,+,A,T,842.9%
MCP: c.IVS1-1G>CG/C42.9%
8/1/5*MCP: c.218C>TC/T85.7%
MCP: c.147G>AG/A85.7%
5/2/2MCP: c.843_844delAChet50%
21/5/2MCP: c.768T>GT/G28.6%
Goicoechea de Jorge et al. [53]2007Spanish32/4/7*CFB: c.858C>G (p.F286L)C/G64.0%
MCP: MCPggaachet87.5%
Frémeaux-Bacchi et al. [50]200854/?/6C3: p.R570WC/T
Martinez-Barricarte et al. [29]20086/1/3CFH: p.R1210CC/T12.5%rs1219130590.02%
Lhotta et al. [51]2009Austrian61/9/4C3: c.1775G>A (p.R570Q)G/A10.0%rs121909583
Habibi et al. [34]2010Tunisian33/10/6CFH: c.3767_3771delTAGAhom37.5%
Sullivan et al. [33]20106/3/2CFH: c.3007G>T (p.W978C)G/T40.0%
5/2/2CFH: c.3619G>T (p.R1182S)G/T50.0%
4/1/2MCP: c.404delG (p.G135VfsX13)het66.7%
3/?/2CFI: c.491A>T (p.D164V)A/T
Hakobyan et al. [32]201015/3/4CFH: p.C853R, H402het+H33.3%
Provaznikova et al. [44] 20123/0/2MCP: c.1148C>TC/T
2/0/2MCP: c.404G>AG/A
2/0/2MCP: c.350insAhet
7/2/2MCP: c.2T>AT/A50.0%
Sartz et al. [52] 201220/2/4*C3: c.4973T>C (p.V1636A)T/C100.0%
CFI: c.IVS12+5G>TG/T100.0%
MCP: c.1058C>T (p.A304V)C/T50.0%
CFH: c.2850G>T (p.Q950H)G/T50.0%
Francis et al. [38]201235/4/3CFH/CFHR3 hybridhet42.9%

#Pedigrees are included if at least two family members were diagnosed with aHUS at least 6 months apart.
*More than one mutation identified within the family.
**? presents undetermined number.
***The risk haplotype MCP ggaac is formed by rs2796267, rs2796268, rs1962149, rs859705, and rs7144.