ArticleHuman mutation2010
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 114 citations in OpenAlex.
- Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.European journal of human genetics : EJHG · 2026Article
- Failure of lipid control by PCSK9 inhibitors in compound heterozygous familial hypercholesterolemia complicated with premature myocardial infarction: A case report.Clinical case reports · 2024Article
- Cholesterol efflux capacity is increased in subjects with familial hypercholesterolemia in a retrospective case-control study.Scientific reports · 2023Article
- Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.Journal of atherosclerosis and thrombosis · 2022Observational
- Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.Metabolites · 2022Article
- Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.Frontiers in genetics · 2022Article
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
- Case Report: Difficulties in the Treatment of a 12-Year-Old Patient With Homozygous Familial Hypercholesterolemia, Compound Heterozygous Form - 5 Years Follow-Up.Frontiers in cardiovascular medicine · 2021Article
- Identification of novel variants in theBiomedical reports · 2021Article
- PCSK9: A Key Target for the Treatment of Cardiovascular Disease (CVD).Advanced pharmaceutical bulletin · 2020Review
- Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.Frontiers in genetics · 2020Review
- Genetics of Familial Hypercholesterolemia: New Insights.Frontiers in genetics · 2020Review
- Genes Potentially Associated with Familial Hypercholesterolemia.Biomolecules · 2019Review
- Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.FEBS open bio · 2019Article
- A Japanese case of familial hypercholesterolemia with a novel mutation in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2019Article
- Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.Anatolian journal of cardiology · 2018Article
- Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?European journal of human genetics : EJHG · 2018Article
- Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.Clinical cardiology · 2018Article
- New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9(proprotein convertase subtilisin-kexin type 9). Through the French ADH Research Network, we collected molecular data from 1358 French probands from eleven different regions in France.Mutations in the LDLR gene were identified in 1003 subjects representing 391 unique events with 46.0% missense, 14.6% frameshift, 13.6% splice, and 11.3% nonsense mutations, 9.7% major rearrangements, 3.8% small in frame deletions/insertions, and 1.0% UTR mutations. Interestingly,175 are novel mutational events and represent 45% of the unique events we identified, highlighting a specificity of the LDLR mutation spectrum in France. Furthermore, mutations in the APOB gene were identified in 89 probands and in the PCSK9 gene in 10 probands. Comparison of available clinical and biochemical data showed a gradient of severity for ADH-causing mutations:FH=PCSK9>FDB>«Others» genes. The respective contribution of each known gene to ADH inthis French cohort is: LDLR 73.9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands,no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes.
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