title: Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia.
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.
authors.affiliation: Department of Chemistry and Biochemistry, Zagreb University School of Medicine, Salata 3 HR-10000 Zagreb, Croatia. dmikacic@mef.hr
authors.forename: Daria
authors.initials: D
authors.lastname: Pasalić
authors.forename: Zvonko
authors.initials: Z
authors.lastname: Jurcić
authors.forename: Gordana
authors.initials: G
authors.lastname: Stipancić
authors.forename: Goran
authors.initials: G
authors.lastname: Ferencak
authors.forename: Trond P
authors.initials: TP
authors.lastname: Leren
authors.forename: Srdjan
authors.initials: S
authors.lastname: Djurovic
authors.forename: Ana
authors.initials: A
authors.lastname: Stavljenić-Rukavina
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D002914:Chylomicrons / Q000097:blood*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014364:Tryptophan / Q000235:genetics*
chemical_list: D002914:Chylomicrons; D014364:Tryptophan; D008071:Lipoprotein Lipase