Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

• Published in: American journal of medical genetics. Part A Vol. 188; no. 2; pp. 648 - 657
• Main Authors: Abdel‐Salam, Ghada M. H., Duan, Ruizhi, Abdel‐Hamid, Mohamed S., Sayed, Inas S. M., Jhangiani, Shalini N., Khan, Ziad, Du, Haowei, Gibbs, Richard A., Posey, Jennifer E., Marafi, Dana, Lupski, James R.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.02.2022; Wiley Subscription Services, Inc
• Subjects: Alleles; brain malformation; cataract; Cataracts; Codons; congenital heart disease; Homozygote; Humans; Intracellular Signaling Peptides and Proteins - genetics; Kinases; Microphthalmia; mRNA stability; mRNA turnover; Neurodevelopmental disorders; Nonsense Mediated mRNA Decay; nonsense‐mediated decay; Phenotype; Phenotypes; Phosphorylation; Protein interaction; Rare diseases; SMG8; Transcription; congenital heart disease; nonsense-mediated decay; cataract; microphthalmia; brain malformation; SMG8

SMG8 (MIM *617315) is a regulatory subunit involved in nonsense‐mediated mRNA decay (NMD), a cellular protective pathway that regulates mRNA transcription, transcript stability, and degrades transcripts containing premature stop codons. SMG8 binds SMG9 and SMG1 to form the SMG1C complex and inhibit...