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

Apolipoprotein CII (ApoCII) deficiency is a relatively rare cause of the ch ylomicronemia syndrome, a disorder characterized by severe fasting hypertri glyceridemia and massive accumulation of chylomicrons in plasma. Here we pr esent a case which is the first example of apoCII deficiency caused by a ma jor rearrangement in the APOCII gene. Southern blot analysis revealed an ap proximately 7.5-kb deletion disrupting the APOCII gene including the promot or region and first exon, Interestingly, the deletion also encompasses the APOCIV gene, a recently discovered novel gene upstream of APOCII, This dele tion is the first mutation to be reported in the APOCIV gene. (C) 2000 Acad emic Press.