{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:52:09Z","timestamp":1790628729088,"version":"4.1.0"},"reference-count":71,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,8,27]]},"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Balanced 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>Intracranial 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).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our 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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-100977","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T19:39:25Z","timestamp":1349897965000},"page":"621-629","source":"Crossref","is-referenced-by-count":20,"title":["A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm"],"prefix":"10.1136","volume":"49","author":[{"given":"Tiia M","family":"Luukkonen","sequence":"first","affiliation":[{"name":"Institute for Molecular Medicine Finland FIMM, Helsinki, Finland"},{"name":"Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"P\u00f6yh\u00f6nen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland"},{"name":"Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarno","family":"Palotie","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland FIMM, Helsinki, Finland"},{"name":"Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland"},{"name":"Wellcome Trust Sanger Institute Hinxton, Cambridge, UK"},{"name":"Program in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pekka","family":"Ellonen","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland FIMM, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Lagstr\u00f6m","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland FIMM, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph H","family":"Lee","sequence":"additional","affiliation":[{"name":"Sergievsky Center\/Taub Institute, Columbia University, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D","family":"Terwilliger","sequence":"additional","affiliation":[{"name":"Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland"},{"name":"Department of Genetics and Development, Columbia University, New York, New York, USA"},{"name":"Department of Psychiatry, Columbia University, New York, New York, USA"},{"name":"Columbia Genome Center, Columbia University, New York, New York, USA"},{"name":"Division of Medical Genetics, New York State Psychiatric Institute, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Salonen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, V\u00e4est\u00f6liitto, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teppo","family":"Varilo","sequence":"additional","affiliation":[{"name":"Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland"},{"name":"Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"2025101800510894000_49.10.621.1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.7.6.637"},{"key":"2025101800510894000_49.10.621.2","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1161\/01.STR.22.7.848","article-title":"Epidemiology of subarachnoid hemorrhage in Finland from 1983 to 1985","volume":"22","author":"Sarti","year":"1991","journal-title":"Stroke"},{"key":"2025101800510894000_49.10.621.3","unstructured":"Pande RL Beckman JA Creager MA Stone DH Cronenwett JL Eagleton MJ Upchurch GR Jr . 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