ArticleJournal of medical genetics2012
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Article in Journal of medical genetics, 2012. 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, 85 citations in OpenAlex.
- Targeted metagenomics using probe capture detect a larger diversity of nitrogen and methane cycling genes in complex microbial communities than traditional metagenomics.ISME communications · 2025Article
- SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.BMC cardiovascular disorders · 2024Article
- Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia.The Malaysian journal of medical sciences : MJMS · 2024Article
- Identification and Functional Analysis ofInternational journal of molecular sciences · 2023Article
- Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.Journal of clinical medicine · 2021Article
- Genetic testing for familial hypercholesterolemia-past, present, and future.Journal of lipid research · 2021Review
- Management of Familial Hypercholesterolemia: Current Status and Future Perspectives.Journal of the Endocrine Society · 2021Review
- Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.Molecular genetics & genomic medicine · 2020Article
- Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.BMC pediatrics · 2019Review
- Familial Hypercholesterolemia: Nip the Evil in the Bud.Indian journal of pediatrics · 2018Article
- The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.Scientific reports · 2017Article
- Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Molecular diagnosis & therapy · 2017Article
- The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.Scientific reports · 2016Article
- Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.Metabolism: clinical and experimental · 2016Article
- Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.European journal of human genetics : EJHG · 2016Article
- Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert review of molecular diagnostics · 2016Article
- Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.BMC research notes · 2015Article
- Truncation of POC1A associated with short stature and extreme insulin resistance.Journal of molecular endocrinology · 2015Article
- Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.European heart journal · 2015Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundFamilial Hypercholesterolaemia (FH) is an autosomal dominant disease, caused by mutations in LDLR, APOB or PCSK9, which results in high levels of LDL-cholesterol (LDL-C) leading to early coronary heart disease. An autosomal recessive form of FH is also known, due to homozygous mutations in LDLRAP1. This study assessed the utility of an exome capture method and deep sequencing in FH diagnosis.
methodsExomes of 48 definite FH patients, with no mutation detected by current methods, were captured by Agilent Human All Exon 50Mb assay and sequenced on the Illumina HiSeq 2000 platform. Variants were called by GATK and SAMtools.
resultsThe mean coverage of FH genes varied considerably (PCSK9=23x, LDLRAP1=36x, LDLR=56x and APOB=93x). Exome sequencing detected 17 LDLR mutations, including three copy number variants, two APOB mutations, missed by the standard techniques, two LDLR novel variants likely to be FH-causing, and five APOB variants of uncertain effect. Two variants called in PCSK9 were not confirmed by Sanger sequencing. One heterozygous mutation was found in LDLRAP1.
conclusionsHigh-throughput DNA sequencing demonstrated its efficiency in well-covered DNA regions, in particular LDLR. This highly automated technology is proving to be effective for heterogeneous diseases and may soon replace laborious conventional methods. However, the poor coverage of gene promoters and repetitive, or GC-rich sequences, remains problematic, and validation of all identified variants is currently required.
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