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

Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant-Forest, Clémentine; Renaux-Petel, Mariette; Leca, Jean-Baptiste; Hazelzet, Tristan; Brasseur-Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean-François; Frebourg, Thierry; Goldenberg, Alice; Saugier-Veber, Pascale; Guerrot, Anne-Marie; Nicolas, Gaël.
Am J Med Genet A; 179(11): 2257-2262, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31390136


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.


We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.


Our patient presented with a syndromic association of severe global developmental delay and diverse malformations, including cleft lip and palate, facial dysmorphic features, brain abnormalities, heart defect, growth retardation, and severe infections. She carried a novel SMG9 homozygous variant NM_019108.3:c.1177C>T, p.(Gln393*), while her unaffected parents were both heterozygous.


We confirm that bi-allelic truncating SMG9 variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life-threatening infections.
Selo DaSilva