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-CIV(Nijmegen).
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.
de Graaf
J
J
Department of General Internal Medicine, University Medical Center Nijmegen, Nijmegen, 6500 HB, The Netherlands. J.deGraaf@aig.azn.nl
Hoffer
M J
MJ
Stuyt
P M
PM
Frants
R R
RR
Stalenhoef
A F
AF
D001056:Apolipoproteins C / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D002914:Chylomicrons / Q000097:blood*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D008297:Male; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree
D001056:Apolipoproteins C; D001057:Apolipoproteins E; D002914:Chylomicrons