ArticleHuman genetics2012
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.Orphanet journal of rare diseases · 2025Article
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- Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Is there a role for biomarkers in thoracic aortic aneurysm disease?General thoracic and cardiovascular surgery · 2019Review
- Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).Journal of human genetics · 2018Article
- Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.Scientific reports · 2017Article
- Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.BMC medical genetics · 2016Article
- Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Molecular vision · 2014Article
- Next generation sequencing in cardiovascular diseases.World journal of cardiology · 2012Article
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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
Aortic aneurysm and/or dissection (AAD) is a life-threatening condition, and several syndromes are known to be related to AAD. In this study, two new technologies, resequencing array technology (ResAT) and next-generation sequencing (NGS), were used to analyze eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD. Eighteen sequence variants were detected using both ResAT and NGS. In addition one of these sequence variants was detected by ResAT only and two additional variants by NGS only. Three of the 18 variants are likely to be pathogenic (in 4.3% of AAD patients and in 8.6% of a subset of patients with thoracic AAD), highlighting the importance of genetic analysis in non-syndromic AAD. ResAT and NGS similarly detected most, but not all, of the variants. Resequencing array technology was a rapid and efficient method for detecting most nucleotide substitutions, but was unable to detect short insertions/deletions, and it is impractical to update custom arrays frequently. Next-generation sequencing was able to detect almost all types of mutation, but requires improved informatics methods.
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