Research News: New collaborative publication: clinical validity of the genes for HTAAD

A new scientific publication entitled Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection, co-authored by several VASCERN HCP representatives including Prof Julie De Backer (Chair of the HTAD-WG), Prof Catherine Boileau (HTAD-WG member), Dr Leema Robert (Chair of the MSA-WG) and Prof Bart Loeys (member of the HTAD and MSA WGs), has just been published!

This article aims to identify the genes that predispose patients to heritable thoracic aortic aneurysms and dissection (HTAAD) using the Clinical Genome Resource (ClinGen) Framework, a tool that defines the clinical relevance of genes and variants. Thoracic aortic aneurysms (TAAD) can enlarge progressively and lead to acute aortic dissections (life-threatening event that can lead to premature death). Accurately identifying the genes that may trigger HTAAD can therefore aid in indentifying family members at risk and in determining the proper surveillance and management for these patients.

The ClinGen Framework was used to assess the strength of the gene-disease relationship between 53 candidate genes and HTAAD. Eleven genes (COL3A1, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2, ACTA2, MYH11 and MYLK)  were identified as “HTAAD” genes as they were assessed as having a “definitive” and “strong” gene-disease association during the curation process. The other genes were grouped into the following categories: “potentially diagnostic genes”, “limited genes” with a limited gene-disease association” and genes with “no clinical evidence for HTAAD”.

The gene categories presented in this publication may be a useful tool to inform clinical laboratories in the development, interpretation, and subsequent clinical implications of genetic testing for patients with aortic disease.

To read the abstract, click here


J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. Renard M1, Francis C2, Ghosh R3, Scott AF4, Witmer PD4, Adès LC5, Andelfinger GU6, Arnaud P7, Boileau C7, Callewaert BL1, Guo D8, Hanna N7, Lindsay ME9, Morisaki H10, Morisaki T10, Pachter N11, Robert L12, Van Laer L13, Dietz HC14, Loeys BL13, Milewicz DM8, De Backer J15.

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