Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

doi:10.1136/jmedgenet-2018-105304

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Article

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Journal of medical genetics - 1 Apr 2019

Cannaerts Elyssa, Kempers Marlies, Maugeri Alessandra, Marcelis Carlo, Gardeitchik Thatjana, Richer Julie, Micha Dimitra, Beauchesne Luc, Timmermans Janneke, Vermeersch Paul, Meyten Nathalie, Chénier Sébastien, van de Beek Gerarda, Peeters Nils, Alaerts Maaike, Schepers Dorien, Van Laer Lut, Verstraeten Aline, Loeys Bart

Abstract excerpt

BACKGROUND: Missense variants in SMAD2, encoding a key transcriptional regulator of transforming growth factor beta signalling, were recently reported to cause arterial aneurysmal disease. OBJECTIVES: The aims of the study were to identify the genetic disease cause in families with aortic/arterial aneurysmal disease and to further define SMAD2 genotype-phenotype correlations. METHODS AND RESULTS: Using gene panel...

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PMID: 29967133
DOI: 10.1136/jmedgenet-2018-105304

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SMAD2

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