ArticleJournal of human genetics2003
Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
Article in Journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed.
- Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.Journal of human genetics · 2014Trial
- Article
- Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.Journal of the Endocrine Society · 2020Article
- Transcriptomic Alterations in Lung Adenocarcinoma Unveil New Mechanisms Targeted by theFrontiers in oncology · 2018Article
- Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.BMJ case reports · 2012Article
- ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.Molecular biology reports · 2007Review
- Familial hypercholesterolemia associated with severe hypoalphalipoproteinemia in a Moroccan family.Journal of genetics · 2007Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor (LDLR) gene, although it can also be due to alterations in the gene encoding apolipoprotein B (familial defective apoB or FDB) or in other unidentified genes. In Morocco, the molecular basis of FH is unknown. To obtain information on this issue, 27 patients with FH from eight unrelated families were analyzed by screening the LDLR (PCR-SSCP and Southern blot) and apoB genes (PCR and restriction enzyme digestion analysis). None of the patients carried either the R3500Q or the R3531C mutation in the apoB gene. By contrast, seven mutations in the LDLR gene were identified, including five missense mutations on exons 4, 6, 8, and 14 (C113R, G266C, A370T, P664L, C690S) and two large deletions (FH Morocco-1 and FH Morocco-2). The two major rearrangements and the missense mutation G266C are novel mutations and could well be causative of FH in the Moroccan population. This study has yielded preliminary information on the mutation spectrum of the LDLR gene among patients with FH in Morocco.
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Registered trials
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