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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
Author(s) -
Micha Dimitra,
Guo Dongchuan,
HilhorstHofstee Yvonne,
Kooten Fop,
Atmaja Dian,
Overwater Eline,
Cayami Ferdy K.,
Regalado Ellen S.,
Uffelen René,
Venselaar Hanka,
Faradz Sultana M.H.,
Vriend Gerrit,
Weiss Marjan M.,
Sistermans Erik A.,
Maugeri Alessandra,
Milewicz Dianna M.,
Pals Gerard,
Dijk Fleur S.
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22854
Subject(s) - biology , proband , arterial dissection , gene , genetics , arterial wall , mutation , aneurysm , bioinformatics , medicine , anatomy , dissection (medical) , surgery
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