Table 3.

New CFH gene mutations in non-Stx–HUS patients from our registry

Exon, subject/family code
Mutation
SCR
Effect
Subgroups
Inheritance
CFH serum levels, mg/L*
Unaffected carriers
XVIII        
    S176 137   2742G > T   15   S8901   Sporadic   Heterozygote   788   ND  
    S177 161   2742G > T   15   S8901   Sporadic   Heterozygote   748   ND  
    S178 181   2759del15bp   15   896-900del5aa   Sporadic   Heterozygote  285  ND  
    S181 160   2770T > A   15   Y899Stop   Sporadic   Homozygote  196  ND  
XIX        
    S182 155   2981A > G   16   1970V   Sporadic   Heterozygote   550   ND  
XX        
    S185 151   (3103-3105)delG†  17   1014Stop   Sporadic   Heterozygote   414   ND  
XXIII        
    S187 194   dup (3546-3581)   20   Ins12aa   Sporadic   Heterozygote   407   ND  
    F192 210   3663T > C   20   V1197A   Familial   Heterozygote   665   2/2  
    D193 210   3663T > C   20   V1197A   Familial   Heterozygote   ND   2/2  
    S196 177   3701C > T   20   R1210C   Sporadic   Heterozygote   793   ND  
    S187 090   3701C > T   20   R1210C   Sporadic   Heterozygote   511   ND  
    S198 206
 		 3701C > T
 		 20
 		 R1210C
 		 Sporadic
 		 Heterozygote
 		 688
 		 ND
 
Exon, subject/family code
Mutation
SCR
Effect
Subgroups
Inheritance
CFH serum levels, mg/L*
Unaffected carriers
XVIII        
    S176 137   2742G > T   15   S8901   Sporadic   Heterozygote   788   ND  
    S177 161   2742G > T   15   S8901   Sporadic   Heterozygote   748   ND  
    S178 181   2759del15bp   15   896-900del5aa   Sporadic   Heterozygote  285  ND  
    S181 160   2770T > A   15   Y899Stop   Sporadic   Homozygote  196  ND  
XIX        
    S182 155   2981A > G   16   1970V   Sporadic   Heterozygote   550   ND  
XX        
    S185 151   (3103-3105)delG†  17   1014Stop   Sporadic   Heterozygote   414   ND  
XXIII        
    S187 194   dup (3546-3581)   20   Ins12aa   Sporadic   Heterozygote   407   ND  
    F192 210   3663T > C   20   V1197A   Familial   Heterozygote   665   2/2  
    D193 210   3663T > C   20   V1197A   Familial   Heterozygote   ND   2/2  
    S196 177   3701C > T   20   R1210C   Sporadic   Heterozygote   793   ND  
    S187 090   3701C > T   20   R1210C   Sporadic   Heterozygote   511   ND  
    S198 206
 		 3701C > T
 		 20
 		 R1210C
 		 Sporadic
 		 Heterozygote
 		 688
 		 ND
 

ND indicates not done; italics indicate below-normal CFH serum levels.

*

CFH serum levels were measured by radial immunodiffusion (RID) assay (normal range, 350-750 mgNDL).

†

Deletion of 1 of the 3 consecutive guanines (3103-3105).

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