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
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
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.