Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

François Lecoquierre (1) , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest (2) , Mariette Renaux-Petel (1) , Jean-Baptiste Leca , Tristan Hazelzet , Marie Brasseur-Daudruy (3) , Ferielle Louillet , Marc Muraine (4) , Sophie Coutant (1) , Olivier Quenez (1) , Anne Boland (5) , Jean-François Deleuze (5) , Thierry Frébourg (1) , Alice Goldenberg (1) , Pascale Saugier-Veber (1) , Anne-Marie Guerrot (1) , Gael Nicolas (1)

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
2 Service de pédiatrie médicale et médecine de l'adolescent [Rouen]
3 Service d'Imagerie Médicale [CHU Rouen]
4 Service d'ophtalmologie [Rouen]
5 CNG - Centre National de Génotypage

SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.

Mots clés: SMG9; heart and brain malformation; nonsense mediated decay

Domaines: Génétique

François Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, Claire Gayet, Clémentine Dumant-Forest, et al.. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩. ⟨hal-02356422⟩