title: Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.
abstract: 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.
authors.affiliation: Department of Vascular Biology and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, P.O. Box 5015, 100 Perth Drive, London, ON N6A5K8, Canada.
authors.forename: Amit R
authors.initials: AR
authors.lastname: Rahalkar
authors.forename: Fiona
authors.initials: F
authors.lastname: Giffen
authors.forename: Bryan
authors.initials: B
authors.lastname: Har
authors.forename: Josephine
authors.initials: J
authors.lastname: Ho
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Morrison
authors.forename: John
authors.initials: J
authors.lastname: Hill
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
authors.forename: Tisha
authors.initials: T
authors.lastname: Joy
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D003937:Diagnosis, Differential; D005091:Exons; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D008071:Lipoprotein Lipase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D008071:Lipoprotein Lipase