| Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. | |
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MedLine Citation:
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PMID: 20635400 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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The vascular type of Ehlers-Danlos syndrome (EDS IV) is associated with a high risk of life-threatening medical complications, including ruptures of large arteries, the intestine, and the uterus during pregnancy. An arterial rupture occurring in an individual with EDS is regarded as almost diagnostic of EDS IV, which is caused by heterozygous mutations in COL3A1. Here however, we report on a man with skin lesions typical of EDS, easy bruising and recurrent inguinal hernias who had a spontaneous rupture of the left common iliac artery at the age of 42 years but in whom we detected no COL3A1 mutation. As he clinically fulfilled the diagnostic criteria for classic EDS (EDS I), we sequenced the major EDS I gene COL5A1 and identified a heterozygous de novo nonsense mutation, c.3184C>T (p.R1062X). As, to the best of our knowledge, this is the first report of a patient with COL5A1 mutation-positive classic EDS and rupture of a large artery, we suggest that arterial rupture might be a rare complication of classic EDS. This finding has potential implications for genetic counseling and molecular genetic testing in Ehlers-Danlos syndrome. |
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Authors:
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Guntram Borck; Peter Beighton; Christian Wilhelm; Jürgen Kohlhase; Christian Kubisch |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2090-3 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, University of Cologne, Cologne, Germany. guntram.borck@uk-koeln.de |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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