Article ; Online: A novel
2024
Abstract: We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor ... ...
Abstract | We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-β pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection. |
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Language | English |
Publishing date | 2024-04-18 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 2299146-3 |
ISSN | 1744-828X ; 1741-0541 |
ISSN (online) | 1744-828X |
ISSN | 1741-0541 |
DOI | 10.2217/pme-2023-0135 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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