ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04751058 (Genetic Profile in Patients With Aortic Syndrome), which is not on this map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Profile in Patients With Aortic Syndrome
Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.European journal of human genetics : EJHG · 2026Article
- A cell and transcriptome atlas of human arterial vasculature.Cell genomics · 2025Article
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- Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.NPJ genomic medicine · 2025Article
- FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.Molecular genetics and metabolism reports · 2025Article
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Case Report:Frontiers in genetics · 2025Article
- Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Scientific reports · 2024Article
- Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.Journal of clinical 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
- Hereditary Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Novel variant alters splicing ofFrontiers in genetics · 2024Article
- Mechanistic insight into lysyl oxidase in vascular remodeling and angiogenesis.Genes & diseases · 2023Review
- Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.American journal of medical genetics. Part A · 2022Article
- Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure.International journal of molecular sciences · 2022Article
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.The Journal of clinical endocrinology and metabolism · 2022Article
- Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.Scientific reports · 2022Article
- Identification of NovelFrontiers in genetics · 2022Article
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.American journal of medical genetics. Part A · 2021Article
- NovelInternational journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
31 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHeritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management.
methodsWe analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity.
resultsWe identified 1 pathogenic variant (PV; in FBN1 or SMAD3) in 15 patients (7.5%) and ≥1 likely pathogenic variant (LPV; in COL3A1, FBN1, FBN2, LOX, MYH11, SMAD3, TGFBR1, or TGFBR2) in 19 individuals (9.6%), together resulting in 17.1% diagnostic yield. Thirteen PV/LPV were novel. Of PV/LPV-negative patients 47 (23.6%) showed ≥1 variant of uncertain significance (VUS). Twenty-five patients had concomitant variants. In-depth evaluation of reported/calculated variant classes resulted in reclassification of 19.8% of variants.
conclusionVariant classification and refinement are essential for shaping mutational spectra of disease genes, thereby improving clinical sensitivity. Obligate stringent multigene analysis is a powerful tool for identifying genetic causes of clinically related CTDs. Nonetheless, the relatively high rate of PV/LPV/VUS-negative patients underscores the existence of yet unknown disease loci and/or oligogenic/polygenic inheritance.
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