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  • Title: A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
    Author: Jelassi A, Najah M, Jguirim I, Maatouk F, Lestavel S, Laroussi OS, Rouis M, Boileau C, Rabès JP, Varret M, Slimane MN.
    Journal: Clin Chim Acta; 2008 Jun; 392(1-2):25-9. PubMed ID: 18355452.
    Abstract:
    BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in either the low-density lipoprotein receptor, the apolipoprotein B or the proprotein convertase subtilisin/kexin type 9 genes. It is characterized by a high concentration of low-density lipoprotein (LDL), which frequently gives rise to premature coronary disease. In this study, we report a novel splice site mutation of the LDL receptor gene in a Tunisian family. METHODS: Seven patients from the family were screened for mutations in the LDLR gene and the apoB gene, using direct sequencing. RT-PCR and study on cultured skin fibroblast were realised to characterize the effect of novel mutation. RESULTS: Direct sequencing of the promoter and 18 exons reveals a G>A substitution in the splice site junction of intron 8 (c.1186+1 G>A). Study on cultured skin fibroblasts showed a residual activity of 10% of the LDL receptor. Reverse transcription, amplification and direct sequencing of RNA from patient's lymphocytes reveal a deletion of the final 51 bp of exon 8 preserving the reading frame. CONCLUSIONS: The study identified a novel splice mutation c.1186+1 G>A in the LDL receptor gene. It causes the utilization of a new cryptic donor splice site 51 bp downstream from the normal site.
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