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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections |
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| Authors: | Dimitra Micha Dong‐chuan Guo Yvonne Hilhorst‐Hofstee Fop van Kooten Dian Atmaja Eline Overwater Ferdy K Cayami Ellen S Regalado René van Uffelen Hanka Venselaar Sultana MH Faradz Gerrit Vriend Marjan M Weiss Erik A Sistermans Alessandra Maugeri Dianna M Milewicz Gerard Pals Fleur S van Dijk |
| Affiliation: | 1. Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, MB, The Netherlands;2. Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas;3. Department of Clinical Genetics, Leiden University Medical Center, Leiden, RC, The Netherlands;4. Department of Neurology, Erasmus Medical Centre, Rotterdam, CA, The Netherlands;5. Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Central Java, Indonesia;6. Department of Clinical Genetics, Academic Medical Center, Amsterdam, DD, The Netherlands;7. Department of Respiratory Medicine, Albert Schweitzer Hospital, Dordrecht, AT, The Netherlands;8. Center for Molecular and Biomolecular Genetics (CMBI), Nijmegen, HB, The Netherlands |
| Abstract: | We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF‐β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF‐β signaling pathway exhibit arterial aneurysms and dissections as key features |
| Keywords: | SMAD2 TGF‐ß aneurysm dissection |
