Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.
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.
Rahalkar
Amit R
AR
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.
Giffen
Fiona
F
Har
Bryan
B
Ho
Josephine
J
Morrison
Katherine M
KM
Hill
John
J
Wang
Jian
J
Hegele
Robert A
RA
Joy
Tisha
T
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
D008071:Lipoprotein Lipase