ArticleJournal of medical genetics2012
A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.
Article in Journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Adverse Cardiovascular Outcomes and Antihypertensive Treatment: A Genome-Wide Interaction Meta-Analysis in the International Consortium for Antihypertensive Pharmacogenomics Studies.Clinical pharmacology and therapeutics · 2021Pooled it
- Prevalence of Intracranial Aneurysm in Patients with Aortopathy: A Systematic Review with Meta-Analyses.Journal of stroke · 2020Pooled it
- Vitamin B5 is a context-dependent dietary regulator of nociception.G3 (Bethesda, Md.) · 2024Article
- Genetic insight into putative causes of xanthelasma palpebrarum: a Mendelian randomization study.Frontiers in immunology · 2024Article
- Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.Korean journal of radiology · 2022Article
- Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies.Frontiers in genetics · 2021Article
- Association of Intracranial Aneurysms With Aortic Aneurysms in 125 Patients With Fusiform and 4253 Patients With Saccular Intracranial Aneurysms and Their Family Members and Population Controls.Journal of the American Heart Association · 2019Article
- Massive intracranial bleeding due to the rupture of a rare spontaneous pseudoaneurysm of the middle cerebral artery in a pediatric patient: case report with clinical, radiological, and pathologic findings.Forensic science, medicine, and pathology · 2019Article
- Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Molecular genetics & genomic medicine · 2018Article
- Promoter-Specific Expression and Genomic Structure of IgLON Family Genes in Mouse.Frontiers in neuroscience · 2017Article
- Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.Molecular syndromology · 2016Article
- Genome-wide linkage and positional association analyses identify associations of novel AFF3 and NTM genes with triglycerides: the GenSalt study.Journal of genetics and genomics = Yi chuan xue bao · 2015Article
- Arterial distensibility in patients with ruptured and unruptured intracranial aneurysms: is it a predisposing factor for rupture risk?Medical science monitor : international medical journal of experimental and clinical research · 2013Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundBalanced chromosomal rearrangements occasionally have strong phenotypic effects, which may be useful in understanding pathobiology. However, conventional strategies for characterising breakpoints are laborious and inaccurate. We present here a proband with a thoracic aortic aneurysm (TAA) and a balanced translocation t(10;11) (q23.2;q24.2). Our purpose was to sequence the chromosomal breaks in this family to reveal a novel candidate gene for aneurysm. METHODS AND
resultsIntracranial aneurysm (IA) and TAAs appear to run in the family in an autosomal dominant manner: After exploring the family history, we observed that the proband's two siblings both died from cerebral haemorrhage, and the proband's parent and parent's sibling died from aortic rupture. After application of a genome-wide paired-end DNA sequencing method for breakpoint mapping, we demonstrate that this translocation breaks intron 1 of a splicing isoform of Neurotrimin at 11q25 in a previously implicated candidate region for IAs and AAs (OMIM 612161).
conclusionsOur results demonstrate the feasibility of genome-wide paired-end sequencing for the characterisation of balanced rearrangements and identification of candidate genes in patients with potentially disease-associated chromosome rearrangements. The family samples were gathered as a part of our recently launched National Registry of Reciprocal Balanced Translocations and Inversions in Finland (n=2575), and we believe that such a registry will be a powerful resource for the localisation of chromosomal aberrations, which can bring insight into the aetiology of related phenotypes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.