Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene

Am J Hum Genet. 1990 Jul;47(1):107-11.


In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme. Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. This mutation must lead to the synthesis of a sharply truncated protein, accounting for the enzymatic deficiency noted in the patient.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cosmids
  • DNA / genetics
  • Exons*
  • Humans
  • Hyperlipoproteinemia Type I / enzymology
  • Hyperlipoproteinemia Type I / genetics*
  • Hyperlipoproteinemias / genetics*
  • Lipoprotein Lipase / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes


  • Oligonucleotide Probes
  • DNA
  • Lipoprotein Lipase