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  • Title: Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia.
    Author: Pasalić D, Jurcić Z, Stipancić G, Ferencak G, Leren TP, Djurovic S, Stavljenić-Rukavina A.
    Journal: Clin Chim Acta; 2004 May; 343(1-2):179-84. PubMed ID: 15115692.
    Abstract:
    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 wild-type 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 triacylglycerol (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 hypertriglyceridemia is therefore necessary and justifiable.
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