Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia

Background: Familial LPL deficiency is a rare inborn error of metabolism caused by mutational change within the LPL gene, which leads to massive hypertriglyceridemia. Methods: The underlying molecular defect in a boy of Croatian descent was studied by SSCP analysis, DNA sequencing and finally confirmed by RFLP. Results: DNA analysis showed the child to be a homozygote and his parents heterozygotes for TGG --> CGG change in codon 86 of the LPL gene, which leads to W86R amino acid substitution. DNA sequence analysis also showed a silent mutation in the third exon of father's DNA, V108V. Determination of some LPL gene polymorphisms showed the child and his parents to have HindIII/H+H+ and both S447 wildtype alleles, whereas for PvuII the parents had P+P- and the child P+P+ genotype. Conclusions: In this case, W86R mutation was the reason for the production of nonfunctional enzyme and consequently triacylgtycerol (TG) exceeding 15 mmol/l. This implies the risk of frequent episodes of acute pancreatitis. Decreased LPL activity leads to elevated triacylglycerol levels and reduced HDL-cholesterol, both risk factors for the development of coronary artery disease. LPL genotyping especially of young patients with hypertriglyceridernia is therefore necessary and justifiable. (C) 2004 Elsevier B.V All rights reserved.