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Article

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

American journal of human genetics - 3 Dec 2020

Alzahrani Fatema, Kuwahara Hiroyuki, Long Yongkang, Al-Owain Mohammed, Tohary Mohamed, AlSayed Moeenaldeen, Mahnashi Mohammed, Fathi Lana, Alnemer Maha, Al-Hamed Mohamed H, Lemire Gabrielle, Boycott Kym M, Hashem Mais, Han Wenkai, Al-Maawali Almundher, Al Mahrizi Feisal, Al-Thihli Khalid, Gao Xin, Alkuraya Fowzan S

Abstract excerpt

We have previously described a heart-, eye-, and brain-malformation syndrome caused by homozygous loss-of-function variants in SMG9, which encodes a critical component of the nonsense-mediated decay (NMD) machinery. Here, we describe four consanguineous families with four different likely deleterious homozygous variants in SMG8, encoding a binding partner of SMG9. The observed phenotype greatly resembles that...

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Identifiers

PMID: 33242396
DOI: 10.1016/j.ajhg.2020.11.007
PMCID: PMC7820624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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