For the first group that contained 17 KP variants in 23 carriers, we found five individuals with matching phenotypes: prolonged QTc interval (Arg366Trp in KCNQ1 and Arg858His in CACNA1C), hypertriglyceridemia (Gln313Ter in APOA5), CAD (Pro279Leu in MEF2A), and cerebral infarction (Arg153Cys in NOTCH3). The gene discussed is NOTCH3; the disease is brain infarction.