A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated families with intellectual disability (ID) and a nov...

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Detalles Bibliográficos
Autores principales: Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I., Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9090808/
https://www.ncbi.nlm.nih.gov/pubmed/35087184
http://dx.doi.org/10.1038/s41431-022-01046-5

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