These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
    Author: Jelassi A, Slimani A, Jguirim I, Najah M, Maatouk F, Varret M, Slimane MN.
    Journal: Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573.
    Abstract:
    Autosomal dominant hypercholesterolaemia (ADH) is due to defects in the LDL receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB) or in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize mutations at the origin of ADH in two Tunisian families. We found three genomic variations: (1) c.1845 + 1G > A, a splice site mutation in the LDLR gene and (2) two variations in the PCSK9 gene (p.Phe515Leu and p.Gly670Glu) that were both reported to be associated with high LDL-C levels. These results enlarge the spectrum of ADH-causative LDLR and PCSK9 variations in Tunisia. Our observations indicate that missense variations in the PCSK9 gene do not influence the clinical phenotype of ADH patients carrying a mutation in the LDLR gene.
    [Abstract] [Full Text] [Related] [New Search]