Journal of Immunology Research

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_148delAGAA	het
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_238delDS	het	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_1496delAAA	het	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>T	A/T
				CFH: a 24-bp deletion in SCR20	het
			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_844delAC	het	66.7%
Frémeaux-Bacchi et al. [42]	2006	White	5/0/3	MCP: p.G162R	het	100.0%
			4/0/2*	MCP: p.Y155D	het	100.0%
				MCP: c.IVS7-2A>G	het	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, D1S2692	2,1,+,A,T,8	42.9%
				MCP: c.IVS1-1G>C	G/C	42.9%
			8/1/5*	MCP: c.218C>T	C/T	85.7%
				MCP: c.147G>A	G/A	85.7%
			5/2/2	MCP: c.843_844delAC	het	50%
			21/5/2	MCP: c.768T>G	T/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: MCPggaac	het	87.5%
Frémeaux-Bacchi et al. [50]	2008		54/?/6	C3: p.R570W	C/T
Martinez-Barricarte et al. [29]	2008		6/1/3	CFH: p.R1210C	C/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_3771delTAGA	hom	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, H402	het+H	33.3%
Provaznikova et al. [44]	2012		3/0/2	MCP: c.1148C>T	C/T
			2/0/2	MCP: c.404G>A	G/A
			2/0/2	MCP: c.350insA	het
			7/2/2	MCP: c.2T>A	T/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>T	G/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 hybrid	het	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.