Key result
A novel homozygous nonsense mutation (W464X) in the LMF1 gene was identified in a patient with severe hypertriglyceridemia, resulting in a 76% reduction in LPL activity and 50% reduction in LPL mass.
Population
Hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded
Comparison
Resequencing of the LMF1 gene vs Normolipidemic controls (for biochemical assays)
Design
Case_report
Authors
Loading...
LMF1 sequencing may identify rare causes of unexplained severe hypertriglyceridemia; leaves open prevalence and clinical utility pending validation.
Case Report (n=1)
The identification of a novel homozygous nonsense mutation (W464X) in the LMF1 gene expands the known genetic etiologies of severe hypertriglyceridemia.
Cefalù et al. (2009) conducted a case report in Severe hypertriglyceridemia (n=1). LMF1 gene nonsense mutation (W464X) vs. Normolipidemic controls was evaluated on LPL activity and mass. A novel homozygous nonsense mutation (W464X) in the LMF1 gene was identified in a patient with severe hypertriglyceridemia, resulting in a 76% reduction in LPL activity and 50% reduction in LPL mass.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: