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-ß 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-ß signaling pathway exhibit arterial aneurysms and dissections as key features.
Subject(s)
Aneurysm/genetics , Aortic Dissection/genetics , Arteries/metabolism , Arteries/pathology , Mutation , Smad2 Protein/genetics , Adult , Alleles , Aneurysm/diagnosis , Aneurysm/metabolism , Aortic Dissection/diagnosis , Aortic Dissection/metabolism , Computational Biology/methods , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Models, Molecular , Protein Interaction Domains and Motifs , Sequence Analysis, DNA , Smad2 Protein/chemistry , Young AdultABSTRACT
Mycobacterium heckeshornense is a rare isolate in clinical specimens. We performed simultaneous 16S rRNA sequence analysis of a mycobacterium culture and a histopathology specimen to determine the relevance of M. heckeshornense infection in an immunocompetent patient initially presenting with pneumothorax.
