Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
| Autor: | Jean-François Deleuze, Tristan Hazelzet, Anne-Marie Guerrot, Alice Goldenberg, Jean-Baptiste Leca, François Lecoquierre, Alexandra Chadie, Marc Muraine, Olivier Quenez, Thierry Frebourg, Claire Gayet, Ferielle Louillet, M. Brasseur-Daudruy, Pascale Saugier-Veber, Gaël Nicolas, Anne Boland, Sophie Coutant, Mariette Renaux-Petel, Clémentine Dumant-Forest, Antoine Bonnevalle |
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| Přispěvatelé: | Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'imagerie médicale [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Service d'ophtalmologie [Rouen], Normandie Université (NU)-Hôpital Charles-Nicolle, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Pediatrics
medicine.medical_specialty Deficiency syndrome Heart malformation Developmental Disabilities education Heart defect Context (language use) macromolecular substances SMG9 Feeding difficulty Consanguinity 03 medical and health sciences Genetics nonsense mediated decay Humans Medicine Genetic Predisposition to Disease Global developmental delay Alleles Genetic Association Studies Genetics (clinical) Exome sequencing 030304 developmental biology 0303 health sciences [SDV.GEN]Life Sciences [q-bio]/Genetics business.industry Homozygote 030305 genetics & heredity Intracellular Signaling Peptides and Proteins Brain Syndrome medicine.disease Pedigree 3. Good health Developmental disorder Phenotype Child Preschool Mutation Female business heart and brain malformation |
| Zdroj: | American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A, Wiley, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩ American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩ |
| ISSN: | 1552-4825 1552-4833 |
| DOI: | 10.1002/ajmg.a.61317⟩ |
| Popis: | Introduction 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. Methods We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features. Results 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. Conclusions 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. |
| Databáze: | OpenAIRE |
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