ArticleJournal of atherosclerosis and thrombosis2016
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.
Article in Journal of atherosclerosis and thrombosis, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.Translational pediatrics · 2025Article
- Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.Internal medicine (Tokyo, Japan) · 2023Article
- Association of familial Mediterranean fever and epicardial adipose tissue: A systematic review and meta-analysis.Health science reports · 2022Article
- Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.Internal medicine (Tokyo, Japan) · 2022Review
- Pediatric patients with familially inherited sitosterolemia: Two case reports.Frontiers in cardiovascular medicine · 2022Article
- Diagnosis and Management of Sitosterolemia 2021.Journal of atherosclerosis and thrombosis · 2021Review
- Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.Lipids in health and disease · 2020Article
- Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.Medicine · 2019Review
- Article
- Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2018Article
- Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.Journal of atherosclerosis and thrombosis · 2018Review
- Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol.Journal of atherosclerosis and thrombosis · 2018Article
- Clinical Perspectives of Genetic Analyses on Dyslipidemia and Coronary Artery Disease.Journal of atherosclerosis and thrombosis · 2017Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with histories of recurrent self-limiting episodes of fever and arthritis. Both her phenotypes seemed to co-segregate in a recessive manner. We performed WES on this patient, who was considered a proband. Among 206,430 variants found in this individual, we found 18,220 nonsense, missense, or splice site variants, of which 3,087 were rare (minor allele frequency ≤ 0.01 or not reported) in 1000 Genome (Asian population). Filtering by assuming a recessive pattern of inheritance with the use of an in silico annotation prediction tool, we successfully narrowed down the candidates to the compound heterozygous mutations in the ABCG5 gene (c.1256G＞A or p.Arg419His/c.1763-1G＞A [splice acceptor site]) and to the double-compound heterozygous mutations in the MEFV gene (c.329T＞C/C or p.Leu110Pro/c.442G＞C/C or p.Glu148Val). The patient was genetically diagnosed with sitosterolemia and familial Mediterranean fever using WES for the first time. Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.