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Jelassi A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Slimani A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Jguirim I.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Najah M.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | And 3 more authors.
Annals of Clinical Biochemistry | Year: 2011

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. Source


Jelassi A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Najah M.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Slimani A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Jguirim I.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | And 2 more authors.
Current Genomics | Year: 2013

Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol is necessary for this population. © 2013 Bentham Science Publishers. Source

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