title: Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.
abstract: Several mutations in the human lipoprotein lipase (LPL) gene have been shown to underlie LPL deficiency. These mutations occur in patients who are mainly of European descent, and comprise a single base transition causing a premature stop codon, four separate amino acid substitutions and two large gene rearrangements. Together they account for approximately 40% of the LPL alleles in a cohort of 50 patients whose DNA has been examined in this laboratory. We now report on a new mutation in exon 3 of the LPL gene from a South African subject of South-east Asian extraction. This mutation comprises a six base-pair insertion at the site of a single base deletion. The net insertion of five base-pairs at amino acid positions 102 to 103 causes a shift in the reading frame, generating 44 amino acid residues of random sequence and a premature stop codon within exon 4. This mutation is predicted to result in the synthesis of a markedly truncated protein and is the cause of the enzyme deficiency in our patient.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: H E
authors.initials: HE
authors.lastname: Henderson
authors.forename: R
authors.initials: R
authors.lastname: Devlin
authors.forename: J
authors.initials: J
authors.lastname: Peterson
authors.forename: J D
authors.initials: JD
authors.lastname: Brunzell
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003062:Codon / Q000032:analysis*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005796:Genes / Q000502:physiology; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D015228:Hypertriglyceridemia / Q000235:genetics; D008071:Lipoprotein Lipase / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics; D015345:Oligonucleotide Probes; D014158:Transcription, Genetic / Q000235:genetics*
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D008071:Lipoprotein Lipase