Key result
A homozygous G56R mutation in GPIHBP1 was identified in two siblings with chylomicronemia, though cell culture studies suggest it may not alter function.
Population
Gpihbp1-deficient mice, cultured cells, and human cohorts including 160 patients with severe…
Comparison
GPIHBP1 mutation or deficiency vs Normolipidemic controls or wild-type
Design
Review
Authors
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Do not assume G56R pathogenicity without functional data; leaves open GPIHBP1 variant causality in chylomicronemia.
GPIHBP1 is a key platform for the lipolytic processing of chylomicrons, and its mutations are being investigated as a potential cause of severe hypertriglyceridemia in humans.
Beigneux et al. (2008) conducted a review in Severe hypertriglyceridemia and chylomicronemia. GPIHBP1 mutation (G56R) vs. Normolipidemic controls and hyperlipidemic patients was evaluated. A homozygous G56R mutation in GPIHBP1 was identified in two siblings with chylomicronemia, though cell culture studies suggest it may not alter function.
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