ArticleEuropean stroke journal2017
Next generation sequencing analysis of patients with familial cervical artery dissection.
Article in European stroke journal, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Risk factors for cervical artery dissection: a systematic review with meta-analysis.Stroke and vascular neurology · 2026Pooled it
- Endovascular intervention and therapeutic plasma exchange in the treatment of cerebral venous thrombosis associated with thyrotoxicosis: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Spontaneous Multiple Cervical Artery Dissections Detected with High-Resolution MRI: A Prospective, Case-Series Study.Journal of clinical medicine · 2025Article
- Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.Brazilian journal of cardiovascular surgery · 2025Article
- Genetic variants in patients with multiple arterial aneurysms.Langenbeck's archives of surgery · 2024Article
- Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.Cardiovascular intervention and therapeutics · 2024Review
- Missense Variants inNeurology international · 2024Article
- Unraveling the Links between Chronic Inflammation, Autoimmunity, and Spontaneous Cervicocranial Arterial Dissection.Journal of clinical medicine · 2023Review
- Genetics of spontaneous cervical and coronary artery dissections.Frontiers in global women's health · 2023Review
- Head/neck pain characteristics after spontaneous cervical artery dissection in the acute phase and on a long-run.Cephalalgia : an international journal of headache · 2022Article
- Multiple Arterial Dissections and Connective Tissue Abnormalities.Journal of clinical medicine · 2022Article
- Arterial dissections: Common features and new perspectives.Frontiers in cardiovascular medicine · 2022Review
- Cervical Artery Dissections: Etiopathogenesis and Management.Vascular health and risk management · 2022Review
- Cervical Artery Dissection and Sports.Frontiers in neurology · 2021Article
- Acute Stanford type B aortic dissection-who benefits from genetic testing?Journal of thoracic disease · 2020Article
- Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome.BMJ case reports · 2019Article
- Rare genetic variants in patients with cervical artery dissection.European stroke journal · 2019Article
- Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).Journal of human genetics · 2018Article
- Copy Number Variation and Risk of Stroke.Stroke · 2018Review
Corrections and comments
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Authors and funding
16 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe cause of cervical artery dissection is not well understood. We test the hypothesis that mutations in genes associated with known arterial connective tissue disorders are enriched in patients with familial cervical artery dissection. PATIENTS AND
methodsPatient duos from nine pedigrees with familial cervical artery dissection were analyzed by whole exome sequencing. Single nucleotide variants in a panel of 11 candidate genes (ACTA2, MYH11, FBN1, TGFBR1, TGFBR2, TGFB2, COL3A1, COL4A1, SMAD3, MYLK and SLC2A10) were prioritized according to functionality (stop-loss, nonsense, and missense variants with polyphen-2 score ≥0.95). Variants classified as "benign" or "likely benign" in the ClinVar database were excluded from further analysis. For comparison, non-benign stop-loss, nonsense and missense variants with polyphen-2 score ≥0.95 in the same panel of candidate genes were identified in the European non-Finnish population of the ExAC database (
resultsNon-benign Single nucleotide variants in both affected patients were identified in four of the nine cervical artery dissection families (COL3A1; Gly324Ser, FBN1: Arg2554Trp, COL4A1: Pro116Leu, and TGFBR2: Ala292Thr) yielding an allele frequency of 22.2% (4/18). In the comparison group, 1782 variants were present in 33,370 subjects from the ExAC database (allele frequency: 1782/66,740 = 2.7%;
conclusionCervical artery dissection families showed enrichment for non-benign variants in genes associated with arterial connective tissue disorders. The observation that findings differed across families indicates genetic heterogeneity of familial cervical artery dissection.
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