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- Title
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
- Authors
Hilhorst-Hofstee, Y; Scholte, A J H A; Rijlaarsdam, M E B; van Haeringen, A; Kroft, L J; Reijnierse, M; Ruivenkamp, C A L; Versteegh, M I M; Pals, G; Breuning, M H
- Abstract
Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial deletion of chromosome 15, leading to disruption of SMAD3, in a boy with mild mental retardation, behavioral problems and revealed features of the aneurysms-osteoarthritis syndrome (AOS). Several family members carried the same deletion and showed features including aortic aneurysms and a dissection. This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms-osteoarthritis syndrome. Interestingly, the identification of this familial deletion is an example of an unanticipated result of a genomic microarray and led to the discovery of important but unrelated serious aortic disease in the proband and family members.
- Publication
Clinical genetics, 2013, Vol 83, Issue 4, p337
- ISSN
1399-0004
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2012.01931.x