ArticleJournal of internal medicine2014
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
Article in Journal of internal medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 60 citations in OpenAlex.
- A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- New cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants.Journal of diabetes and metabolic disorders · 2025Article
- Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia.The Malaysian journal of medical sciences : MJMS · 2024Article
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.Genes · 2022Article
- Identification of novel variants in theBiomedical reports · 2021Article
- Genetic testing for familial hypercholesterolemia-past, present, and future.Journal of lipid research · 2021Review
- Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.Molecular biology reports · 2020Observational
- The Prevalence of Familial Hypercholesterolemia (FH) in Chinese Patients With Acute Myocardial Infarction (AMI): Data From Chinese Acute Myocardial Infarction (CAMI) Registry.Frontiers in cardiovascular medicine · 2020Article
- PCSK9 Inhibitors in a Statin-Intolerant Transgender Man With Heterozygous Familial Hypercholesterolemia: A Case Report.Journal of the Endocrine Society · 2019Article
- High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease.The application of clinical genetics · 2019Article
- p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.Scientific reports · 2018Article
- New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.Scientific reports · 2018Article
- Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management.Frontiers in public health · 2017Article
- The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.Scientific reports · 2016Article
- The genetics and screening of familial hypercholesterolaemia.Journal of biomedical science · 2016Review
- Mutation detection in Chinese patients with familial hypercholesterolemia.SpringerPlus · 2016Article
- Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.BMC medical genetics · 2015Article
- Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Medicine · 2015Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS: A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, Gothenburg, Sweden. Next-generation sequencing was performed in all subjects using SEQPRO LIPO RS, a kit that detects mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9) and LDLR adapter protein 1 (LDLRAP1) genes; copy-number variations in the LDLR gene were also examined.
resultsA total of 26 mutations were detected in 50 subjects (65% success rate). Amongst these, 23 mutations were in the LDLR gene, two in the APOB gene and one in the PCSK9 gene. Four mutations with unknown pathogenicity were detected in LDLR. Of these, three mutations (Gly505Asp, Ile585Thr and Gln660Arg) have been previously reported in subjects with FH, but their pathogenicity has not been proved. The fourth, a mutation in LDLR affecting a splicing site (exon 6-intron 6) has not previously been reported; it was found to segregate with high cholesterol levels in the family of the proband.
conclusionsUsing a combination of clinical criteria and targeted next-generation sequencing, we have achieved FH diagnosis with a high success rate. Furthermore, we identified a new splicing-site mutation in the LDLR gene.
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