Authors
Pauline Arnaud, Nadine Hanna, Louise Benarroch, Mélodie Aubart, Laurence Bal, Patrice Bouvagnet, Tiffany Busa, Yves Dulac, Sophie Dupuis-Girod, Thomas Edouard, Laurence Faivre, Laurent Gouya, Didier Lacombe, Maud Langeois, Bruno Leheup, Olivier Milleron, Sophie Naudion, Sylvie Odent, Maria Tchitchinadze, Jacques Ropers, Guillaume Jondeau, Catherine Boileau
Publication date
2019/9/1
Journal
Genetics in Medicine
Volume
21
Issue
9
Pages
2015-2024
Publisher
Elsevier
Description
Purpose
Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD.
Methods
Two hundred twenty-six consecutive nshTAAD probands, either young (<45 years) sporadic or familial cases were included. A next-generation sequencing capture panel comprising 23 known disease-causing genes was performed.
Results
Class 4 or 5 variants were identified in 18% of the nshTAAD probands, while class 3 variants were found in 10% of them. The yield in familial cases was greater than in sporadic cases. SMAD3 and FBN1 genes were the major disease-causing genes …
Scholar articles
P Arnaud, N Hanna, L Benarroch, M Aubart, L Bal… - Genetics in Medicine, 2019