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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Veröffentlicht in:	European journal of human genetics : EJHG 2022-05, Vol.30 (5), p.619-627
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Cognition Gene expression Gene regulation Homozygote Humans Intellectual disabilities Intellectual Disability - genetics Intracellular Signaling Peptides and Proteins - genetics mRNA turnover Neurodevelopmental disorders Nonsense Mediated mRNA Decay Patients RNA, Messenger - genetics Tremor
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