title: Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.
abstract: We have investigated the lipoprotein lipase (LPL) gene of a 2-year-old patient presenting classical features of the familial LPL deficiency including undetectable LPL activity. DNA sequence analysis of exon 5 identified the patient as a homozygote for the Gly188Glu mutation, frequently involved in this disease. A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease. Gly188Glu was involved in 23.5 % of cases and 74.6 % of mutations were clustered in exons 5 and 6. Based on these observations, we propose a method of screening for mutations in this gene.
authors.affiliation: Unité de génétique, hôpital Dupuytren, Limoges, France. gilbert@unilim.fr
authors.forename: B
authors.initials: B
authors.lastname: Gilbert
authors.forename: M
authors.initials: M
authors.lastname: Rouis
authors.forename: S
authors.initials: S
authors.lastname: Griglio
authors.forename: L
authors.initials: L
authors.lastname: de Lumley
authors.forename: P
authors.initials: P
authors.lastname: Laplaud
mesh_terms: D019943:Amino Acid Substitution; D003241:Consanguinity; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D007223:Infant; D008066:Lipolysis; D008071:Lipoprotein Lipase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D017384:Sequence Deletion
chemical_list: D008071:Lipoprotein Lipase