Journal of Immunology Research / 2012 / Article / Tab 1 / Review Article
Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects Table 1 Reported gene mutations and risk haplotypes in aHUS pedigrees# .
Author Year Population Size/carrier/affected Gene: variant or haplotype Risk genotype Penetrance rate SNP rs ID MAF Warwicker et al. [28 ] 1998 51/3/11* CFH : c.3716C>G (p.R1197G)C/G rs121913051 CFH : c.145_148delAGAAhet Ying et al. [31 ] 1999 Bedouin-Arab 55/?/11** CFH : c.3645C>T (p.S1191L)T/T rs460897 29.35% Richards et al. [40 ] 2003 Belgian 8/0/3 MCP : p.237_238delDShet 100.0% German 4/1/2 MCP : c.822T>C (p.S206P)T/C 66.7% rs121909589 Turkish 4/2/2 MCP : c.822T>C (p.S206P)C/C 50.0% rs121909589 Caprioli et al. [30 ] 2003 13/1/2 CFH : c.1494_1496delAAAhet 66.7% 5/1/2 CFH : c.3620T>A (p.Y1183R)T/A 66.7% 10/5/2 CFH : c.3654G>A (p.G1194D)G/A 28.6% 6/1/3 CFH : c.3701C>T (p.R1210C)C/T 75.0% rs121913059 0.02% 37/?/10* CFH : c.3579A>TA/T CFH : a 24-bp deletion in SCR20het 9/2/3 CFH : c.3717G>A (p.R1215Q)G/A 60.0% Noris et al. [41 ] 2003 White 4/1/2 MCP : c.843_844delAChet 66.7% Frémeaux-Bacchi et al. [42 ] 2006 White 5/0/3 MCP : p.G162Rhet 100.0% 4/0/2* MCP : p.Y155Dhet 100.0% MCP : c.IVS7-2A>Ghet 100.0% Esparza-Gordillo et al. [43 ] 2006 Spanish 24/11/2* MCP : c.598C>T(p. P165S)C/T 28.6% MCP : MCPggaac***het 33.3% CFI : c.1610insAT(p.T538X)het 28.6% Caprioli et al. [7 ] 2006 Sardinian 8/4/3* MCP : D1S2735, D1S2796, IVS1-1G>C, ExV(SCR3), Ex XII, D1S26922,1,+,A,T,8 42.9% MCP : c.IVS1-1G>CG/C 42.9% 8/1/5* MCP : c.218C>TC/T 85.7% MCP : c.147G>AG/A 85.7% 5/2/2 MCP : c.843_844delAChet 50% 21/5/2 MCP : c.768T>GT/G 28.6% Goicoechea de Jorge et al. [53 ] 2007 Spanish 32/4/7* CFB : c.858C>G (p.F286L)C/G 64.0% MCP : MCPggaachet 87.5% Frémeaux-Bacchi et al. [50 ] 2008 54/?/6 C3 : p.R570WC/T Martinez-Barricarte et al. [29 ] 2008 6/1/3 CFH : p.R1210CC/T 12.5% rs121913059 0.02% Lhotta et al. [51 ] 2009 Austrian 61/9/4 C3 : c.1775G>A (p.R570Q)G/A 10.0% rs121909583 Habibi et al. [34 ] 2010 Tunisian 33/10/6 CFH : c.3767_3771delTAGAhom 37.5% Sullivan et al. [33 ] 2010 6/3/2 CFH : c.3007G>T (p.W978C)G/T 40.0% 5/2/2 CFH : c.3619G>T (p.R1182S)G/T 50.0% 4/1/2 MCP : c.404delG (p.G135VfsX13)het 66.7% 3/?/2 CFI : c.491A>T (p.D164V)A/T Hakobyan et al. [32 ] 2010 15/3/4 CFH : p.C853R, H402het+H 33.3% Provaznikova et al. [44 ]
2012 3/0/2 MCP : c.1148C>TC/T 2/0/2 MCP : c.404G>AG/A 2/0/2 MCP : c.350insAhet 7/2/2 MCP : c.2T>AT/A 50.0% Sartz et al. [52 ]
2012 20/2/4* C3 : c.4973T>C (p.V1636A)T/C 100.0% CFI : c.IVS12+5G>TG/T 100.0% MCP : c.1058C>T (p.A304V)C/T 50.0% CFH : c.2850G>T (p.Q950H)G/T 50.0% Francis et al. [38 ] 2012 35/4/3 CFH/CFHR3 hybridhet 42.9%
# 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.