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

Citation
B. Gilbert et al., 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, ANN GENET, 44(1), 2001, pp. 25-32
Citations number
91
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
44
Issue
1
Year of publication
2001
Pages
25 - 32
Database
ISI
SICI code
0003-3995(200101/03)44:1<25:LL(DAN>2.0.ZU;2-M
Abstract
We have investigated the lipoprotein lipase (LPL) gene of a 2-year-old pati ent presenting classical features of the familial LPL deficiency including undetectable LPL activity. DNA sequence analysis of exon 5 identified the p atient as a homozygote for the Gly188Glu mutation, frequently involved in t his disease. A review of cases of LPL deficiency with molecular study of th e 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. (C) 2001 Editions scientif iques et medicales Elsevier SAS.