ArticleScientific reports2017
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Genetic Testing for Children with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2026Review
- Population Admixture andJournal of cardiovascular development and disease · 2026Article
- Article
- Family hypercholesterolemia due toMolecular genetics and metabolism reports · 2025Article
- Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journal · 2025Article
- Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
- Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis.JACC. Asia · 2021Article
- Apolipoprotein B gene mutation related to familial hypercholesterolemia in an Iranian population: With or without hypothyroidism.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2021Article
- Mutational Spectrum ofFrontiers in genetics · 2021Article
- Animal Models of Metabolic Disorders in the Study of Neurodegenerative Diseases: An Overview.Frontiers in neuroscience · 2020Review
- Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.Frontiers in genetics · 2020Article
- Pulse wave velocity as a measure of arterial stiffness in patients with familial hypercholesterolemia: a systematic review and meta-analysis.Archives of medical science : AMS · 2019Review
- Molecular modeling of LDLR aids interpretation of genomic variants.Journal of molecular medicine (Berlin, Germany) · 2019Article
- Molecular mechanisms and genetic regulation in atherosclerosis.International journal of cardiology. Heart & vasculature · 2018Review
- Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7.EBioMedicine · 2018Article
- Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management.Frontiers in pharmacology · 2018Review
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH. In this study, we analysed the genetic spectrum of the disease in subjects from the Iranian population with a clinical diagnosis of FH. Samples were collected from 16 children and family members from five different cities of Iran. Probands were screened for mutations in the LDLR, APOB, and PCSK9 genes using next generation sequencing, with results confirmed by Sanger sequencing. The likely pathology of identified variants was examined using in silico tools. Of the probands, 14 had a clinical diagnosis of homozygous FH and two of heterozygous FH. No mutations were found in either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutations, with p.(Trp577Arg) occurring in three and p.Val806Glyfs*11 occurring in two patients. Two mutations were novel: p.(Leu479Gln) and p.(Glu668*). Seven probands with a clinical diagnosis of FH were mutation negative. This pilot study, integrating clinical and molecular-based techniques, begins to elucidate the FH heterogeneity and the mutation spectrum in the Iranian population. Such information is important for future disease management and cost savings.
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