| 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 - Gilbert_2001_Ann.Genet_44_25 |
| Author(s) : Gilbert B , Rouis M , Griglio S , de Lumley L , Laplaud P |
| Ref : Ann Genet , 44 :25 , 2001 |
|
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. |
| PubMedSearch : Gilbert_2001_Ann.Genet_44_25 |
| PubMedID: 11334614 |
| Mutation | G215E_human-LPL |
| Disease | Hyperlipoproteinemia TypeI |
Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P (2001)
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 :25
Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P (2001)
Ann Genet
44 :25