Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-02-11

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

ABSTRACT

PurposeHeritable 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.MethodsTwo 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.ResultsClass 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. Unexpectedly, no premature termination codon variant was identified in the FBN1 gene. Furthermore, we report for the first time that aortic dissection or surgery occurred significantly more often and earlier in probands with a class 4 or 5 pathogenic variant.ConclusionThis study indicates that genetic screening using NGS is efficient in young and familial nshTAAD. The presence of a pathogenic variant has a possible predictive value, which needs to be further investigated because it may influence care. More... »

PAGES

2015-2024

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  • Journal

    TITLE

    Genetics in Medicine

    ISSUE

    9

    VOLUME

    21

    Author Affiliations

  • Hôpital Bichat, Centre de Référence Maladies Rares, Syndrome de Marfan et pathologies apparentées, Assistance Publique–Hôpitaux de Paris, Paris, France
  • LVTS, INSERM U1148, Hôpital Bichat, Université Paris Diderot, Paris, France
  • Hôpital Timone Adultes, Service de Chirurgie vasculaire, Assistance Publique–Hôpitaux de Marseille, Marseille, France
  • Hospices Civils de Lyon, Hôpital Louis Pradel, Service de Cardiologie Pédiatrique et Congénitale adulte, Centre Hospitalier Universitaire de Lyon, Bron, France
  • Hôpital Timone Enfants, Service de Génétique clinique, Département de Génétique Médicale, Assistance Publique–Hôpitaux de Marseille, Marseille, France
  • Hôpital des Enfants, Service de Cardiologie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France
  • Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de Génétique Clinique, Centre Hospitalier Universitaire de Lyon, Bron, France
  • Hôpital des Enfants, Service de Pédiatrie - Endocrinologie, Génétique et Gynécologie Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France
  • Centre de Génétique et FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France
  • INSERM U1211, Université de Bordeaux, Bordeaux, France
  • Hôpital de Brabois, Service de Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Vandœuvre-lès-, Nancy, France
  • GH Pellegrin, Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  • Hôpital Sud, Service de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, Rennes, France
  • Unité de Recherche Clinique HU Paris Île-de-France Ouest, Boulogne, France
  • Clinical Trials linked to this publication

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41436-019-0444-y

    DOI

    http://dx.doi.org/10.1038/s41436-019-0444-y

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112041095

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30739908


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