Whole exome sequencing of familial hypercholesterolaemia patients negative for <i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i> mutations

Abstract

No major novel locus for FH was detected, with no gene having a functional variant in more than three patients; however, an excess of novel variants was found in 18 genes, of which the strongest candidates included CH25H and INSIG2 (p<4.3×10(-4) and p<3.7×10(-3), respectively). This suggests that the genetic cause of FH in these unexplained cases is likely to be very heterogeneous, which complicates the diagnostic and novel gene discovery process.