Table 1.

Diacylglycerol kinase-ε and complement gene mutations found in patients with early-onset atypical hemolytic uremic syndrome

Patient IDDGKEOther Mutations
Allele 1Allele 2
HUS39Exon 6; c.966G>A; p.W322*Exon 11; c.1493C>G; p.P498RTHBD; c.1456G>T; p.D486Y
HUS40Exon 6; c.966G>A; p.W322*Exon 11; c.1493C>G; p.P498RTHBD; c.1456G>T; p.D486Y
HUS272Exon 4; c.744G>C; p.Q248HExon 11; c.1452del; p.G484Gfs*10C3; c.784G>T; p.G262W
HUS299Exon 12; c.1608_1609del; p.H536Qfs*16Exon 12; c.1608_1609del; p.H536Qfs*16None
  • ID, identification; DGKE, diacylglycerol kinase-ε; HUS, hemolytic uremic syndrome.