Key result
Two novel disease-causing LPL mutations (a Gly159Glu missense mutation and a 4-bp ACGG deletion) were identified in two unrelated pedigrees with lipoprotein lipase deficiency.
Case Report (n=2)
Identifies two novel mutations in the LPL gene causing lipoprotein lipase deficiency, expanding the known genetic basis of this rare lipid disorder.
Raises awareness of rare LPL deficiency in hypertriglyceridemic children; leaves open mutation-specific therapeutic targets.
Lipoprotein lipase (LPL) is a key enzyme involved with hydrolysis and removal of triglycerides from plasma. LPL deficiency is a rare condition with an estimated prevalence of 1 in 106. It is characterized biochemically by elevated triglycerides and lowered HDL in the plasma and clinically by a constellation of signs and symptoms during childhood including failure to thrive, lipemia retinalis, eruptive xanthomas, hepatosplenomegaly, and acute pancreatitis. Nearly 100 mutations in the LPL gene have been associated with LPL deficiency. Here we report 2 unrelated pedigrees with LPL deficiency from 2 novel disease-causing LPL mutations: a Gly159Glu missense mutation in exon 5 and a 4-bp ACGG deletion at the 3' boundary of exon 2. We present molecular findings of these 2 cases and review the biochemical, clinical, and genetic features of LPL deficiency.
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Rahalkar et al. (2009) conducted a case report in Lipoprotein lipase deficiency (n=2). Novel LPL mutations (Gly159Glu missense and 4-bp ACGG deletion) was evaluated on Identification of disease-causing mutations. Two novel disease-causing LPL mutations (a Gly159Glu missense mutation and a 4-bp ACGG deletion) were identified in two unrelated pedigrees with lipoprotein lipase deficiency.
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