Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

Abstract

The enzyme lipoprotein lipase (LPL) plays a crucial role in triglyceride metabolism through catalysis of triglyceride-rich chylomicrons and very low density lipoproteins. Primary LPL deficiency manifests with chylomicronaemia and is caused by mutations in the LPL gene. In this paper we report a novel molecular defect (G670-->A) in exon 4 of the LPL gene, resulting in a substitution of serine for glycine at position 139 in the mature protein. We identified homozygosity for this mutation in a boy of Spanish descent. In vitro mutagenesis provided formal proof that this missense mutation completely abolishes LPL function and therefore is the cause of LPL deficiency.

Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment --case report and literature review

“…Our patient's molecular genetic analyses of the LPL gene revealed the homozygous variant c.833C>T (p.Ser278Phe) of unknown clinical significance. This variant was listed in the Human Gene Mutation Database as a potential disease-causing variant since a pathogenic variant reported in the same codon position (p.Ser278Phe) exists [ 10 ]. Therefore, although this variant appears to be rare, it may cause the rare FCS disorder when the clinical and laboratory features of the patient are considered.…”

“…This variant was listed in the Human Gene Mutation Database as a potential disease-causing variant since a pathogenic variant reported in the same codon position (p.Ser278Phe) exists. 10) Therefore, although this variant appears to be rare, it may cause the rare FCS disorder when the clinical and laboratory features of the patient are considered. In a retrospective study performed in India where 15 patients were evaluated with incidental detections of serum lipemia, genetic screening analysis of the LPL gene was offered to 14 patients (1 patient was lost to followup).…”