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Table 2 Genetic results of the patients

From: Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients

Gene Screened n (%)a Variation n (%)b Variant (dbSNP database) Predicted aminoacid change Zygosity MAF_1000G MAF_ESP 6500 SIFT predictionc (score) PolyPhen predictiond (score) Mutation Taster predictione (score) HSF predictionf Ref
CFH (NM_000186.3)
  64 (56.6) 5 (7.8)           
    c.3530A>G p.Tyr1177Cys Hom NR NR Tolarated (0.19) Probably damaging (0.996) Polymorphism (0.99) NA [22]
    c.2850G>T (rs149474608) p.Gln950His Het <0.01 <0.01 Deleterious (0.049) Probably damaging (0.96) Polymorphism (0.99) NA [26]
    c.2127_2129del p.Tyr711del Het NR NR NA NA Disease causing (0.54) NA Novel
    c.3148A>T (rs35274867) p.Asn1050Tyr Het 0.01 0.01 Tolarated (0.08) Benign (0.016) Polymorphism (0.99) NA [27]
    c.3133+1G>A Splice site Het NR NR NA NA N/A Broken WT Donor Site Novel
CFI (NM_000204.3)
  69 (61.0) 1 (1.4)           
    c.608C>T (rs138346388) p.Thr203Ile Het <0.01 <0.01 Tolarated (0.16) Benign (0.051) Polymorphism (0.99) NA [28]
MCP (NM_002389)
  49 (43.3) 7 (14.2)           
    c.535G>C (rs779174212) p.Glu179Gln Hom <0.01 <0.01 Tolarated (0.33) Benign (0.023) Polymorphism (0.99) NA [29]
    c.841C>T p.Pro281Ser Hom NR NR Damaging (0) Probably damaging (0.99) Disease causing (0.85) NA Novel
    c.841C>T p.Pro281Ser Het NR NR Damaging (0) Probably damaging (0.99) Disease causing (0.85) NA Novel
    c.476-2A>G Splice site Hom NR NR NA NA NA Broken WT Acceptor Site Novel
    c.476-2A>G Splice site Hom NR NR NA NA NA Broken WT Acceptor Site Novel
    c.286+2T>G Splice site Hom NR NR NA NA NA Broken WT Donor Site [30]
    c.1027+5G>T Splice site Hom NR NR NA NA NA Broken WT Donor Site [31]
CFB (NM_001710)
  62 (54.8) 1 (1.6)           
    c.125T>C p.Val42Ala Het NR NR Tolarated (0.19) Benign (0.12) Disease causing (0.94) NA Novel
C3 (NM_000064)
  35 (30.9) 4 (11.4)           
    c.537_539del p.Leu180del Het NR NR NA NA Polymorphism (0.99) NA Novel
    c.3125G>T p.Arg1042Leu Het NR NR Damaging (0.03) Probably damaging (0.99) Disease causing (0.99) NA [17]
    c.4148C>A (rs139100972) p.Thr1383Asn Het NR <0.01 Tolarated (0.5) Benign (0.36) Polymorphism (0.99) NA [3]
    c.1976-6C>T Splice site Het NR NR NA NA NA Probably no impact Novel
DGKE(NM_003647)
  67 (59.2) 6 (8.9)           
    c. 1009C>T (rs762576212) p.Arg337Stop Hom NR <0.01 NA NA Disease causing (1) NA in dbSNP
    c.118_121dup p.Ser41Metfs*2 Hom NR NR NA NA Disease causing (1) NA Novel
    c.607_610del p.Lys203Glnfs*6 Hom NR NR NA NA Disease causing (1) NA Novel
    c.263_264insGGG p.Asp88Glufs*84 C-Het NR NR NA NA Disease causing NA Novel
    CGCCA/c.76del p.Thr26Argfs*143   NR NR NA NA Disease causing
(1)
  Novel
    c. 427C>T p.Gln143Stop C-Het NR NR NA NA Disease causing NA Novel
    c.1133C>G p.Pro378Arg   NR <0.01 Damaging (0) Possibly damaging (0.93) Disease causing (1)   Novel
    c.793A>C p.Thr265Pro Het NR NR Tolarated (0.08) Benign (0.43) Disease causing (0.99) NA Novel
Combined genetic abnormalities
CFH    c.3644G>A (rs121913051) p.Arg1215Gln Het NR NR Tolarated (0.19) Probably damaging (0.99) Polymorphism (0.99) NA [32]
CFB    c.1135C>T p.Arg379Cys Het NR NR Damaging (0.01) Probably damaging (0.99) Polymorphism (0.97) NA Novel
CFB    c.1050G>T p.Lys350Asn C-Het NR NR T olarated (0.14) Probably damaging (0.99) Polymorphism (0.81) NA [33]
    c.1697A>C (rs45484591) p.Glu566Ala   0.01 0 . 0 1 Tolarated (0.73) Benign (0) Polymorphism (0.99) NA [34]
Heterozygous CFHR1-3 deletion
CFB    c.397G>A p.Asp133Asn Het NR NR Damaging (0.05) Benign (0.014) Polymorphism (0.7) NA Novel
Anti-CFH antibody associated with homozygous CFHR1-3 deletion
CFHR5 (NM_030787)    c.53dup p.Glu19Argfs*6 Het NR NR NA NA Disease causing (1) NA Novel
Anti-CFH antibody associated with homozygous CFHR1-3 deletion
  1. aof the 113 patients whose DNA samples were avaliable, bof the analyses that were performed
  2. cSorting Tolerant From Intolerant (SIFT) (http://sift.jcvi.org); dPolymorphism Phenotyping v2 (http://genetics.bwh.harvard.edu/pph2/index.shtml);
  3. eMutation taster (http://www.mutationtaster.org);fHuman Splicing Finder (http://www.umd.be/HSF3/index.html)
  4. Variations and predicted aminoacid changes have been named according to the guidelines of the Human Genome Variation Society using Mutalyzer software (https://mutalyzer.nl)
  5. C-Het, compound heterozygous; Het, heterozygous; Hom, homozygous; NA, not applicable; NR, not reported; WT, wild-type
  6. MAF-1000G, minor allele frequency based on 1000 Genomes Project
  7. MAF-6500, minor allele frequency based on 6503 samples collected at NHLBI Exome Sequencing Project and data from 60.706 individuals aggregated by the Exome Aggregation
  8. Consortium (ExAC; http://exac.broadinstitute.org); (accessed October 2016)