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Article

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

American journal of medical genetics. Part A - 1 Feb 2022

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

Abstract excerpt

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 the kinase activity of SMG1. Biallelic deleterious variants in SMG9 are known to cause a heart and brain...

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Identifiers

PMID: 34761517
DOI: 10.1002/ajmg.a.62561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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