ArticleScientific reports2016
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.Journal of applied genetics · 2026Article
- Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways.Pediatric research · 2026Article
- Endovascular Treatment for Aortic Diseases: Intercontinental Disparities.Current cardiology reports · 2025Review
- Case Report:Frontiers in genetics · 2025Article
- Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.Annals of laboratory medicine · 2024Article
- Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study.Journal of clinical medicine · 2024Article
- A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.European journal of human genetics : EJHG · 2024Article
- Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family members.JTCVS open · 2023Article
- Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.Indian journal of ophthalmology · 2023Article
- Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.Orphanet journal of rare diseases · 2021Article
- Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.Molecular genetics & genomic medicine · 2021Article
- Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.Orphanet journal of rare diseases · 2020Article
- Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.Orphanet journal of rare diseases · 2020Article
- Human aortic aneurysm genomic dictionary: is it possible?Indian journal of thoracic and cardiovascular surgery · 2019Article
- Identification of gross deletions in FBN1 gene by MLPA.Human genomics · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.Case reports in genetics · 2018Article
- Evolving health care through personal genomics.Nature reviews. Genetics · 2017Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited aortopathy, which is characterized by a high risk of fatal aortic aneurysms/dissections, can occur secondarily to several syndromes. To identify genetic mutations and help make a precise diagnosis, we designed a gene panel containing 15 genes responsible for inherited aortopathy and tested 248 probands with aortic disease or Marfan syndrome. The results showed that 92 individuals (37.1%) tested positive for a (likely) pathogenic mutation, most of which were FBN1 mutations. We found that patients with a FBN1 truncating or splicing mutation were more prone to developing severe aortic disease or valvular disease. To date, this is the largest reported cohort of Chinese patients with aortic disease who have undergone genetic testing. Therefore, it can serve as a considerable dataset of next generation sequencing data analysis of Chinese population with inherited aortopathy. Additionally, according to the accumulated data, we optimized the analysis pipeline by adding quality control steps and lowering the false positive rate.
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