ArticleMolecular genetics & genomic medicine2018
Familial aortic disease and a large duplication in chromosome 16p13.1.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- Comprehensive analysis of the lncRNA-miRNA-mRNA ceRNA network in aortic dissection.Archives of medical science : AMS · 2026Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Familial Thoracic Aortic Aneurysm and Dissection: Simultaneous Presentation in Two Brothers.Cureus · 2025Article
- Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease.Frontiers in pediatrics · 2025Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.BMC pregnancy and childbirth · 2023Article
- 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.BMC pregnancy and childbirth · 2022Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- The frequency and efficacy of genetic testing in individuals with scimitar syndrome.Cardiology in the young · 2022Article
- Genetic Variation inJournal of cardiovascular development and disease · 2022Article
- Article
- Copy Number Variation and Risk of Stroke.Stroke · 2018Review
- Familial aortic disease and a large duplication in chromosome 16p13.1.Molecular genetics & genomic medicine · 2018Article
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeA recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease.
methodsWhole exome sequencing (WES) analysis was performed in a patient with a family history of aortic diseases and ischemic stroke due to an aortic dissection extending into both carotid arteries.
resultsThe index patient, his affected father, and an affected sister of his father carried a large duplication of region 16p13.1, which was also verified by quantitative PCR. The duplication was also found in clinically asymptomatic sister of the index patient. WES did not detect pathogenic variants in a predefined panel of 11 genes associated with aortic disease, but identified rare deleterious variants in 14 genes that cosegregated with the aortic phenotype.
conclusionsThe cosegregation of duplication 16p13.1 with the aortic phenotype in this family suggested a causal relationship between the duplication and aortic disease. Variants in known candidate genes were excluded as disease-causing in this family, but cosegregating variants in other genes might modify the contribution of duplication 16p13.1 on aortic disease.
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