Familial Chylomicronemia Caused by a Novel Type of Mutation in the APOE-CI-CIV-CII Gene Cluster Encompassing Both the APOCII Gene and the First APOCIV Gene Mutation: APOCII-CIVNijmegen

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Apolipoprotein CII (ApoCII) deficiency is a relatively rare cause of the chylomicronemia syndrome, a disorder characterized by severe fasting hypertriglyceridemia and massive accumulation of chylomicrons in plasma. Here we present a case which is the first example of apoCII deficiency caused by a major rearrangement in the APOCII gene. Southern blot analysis revealed an approximately 7.5-kb deletion disrupting the APOCII gene including the promotor region and first exon. Interestingly, the deletion also encompasses the APOCIV gene, a recently discovered novel gene upstream of APOCII. This deletion is the first mutation to be reported in the APOCIV gene.