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Article

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

American journal of human genetics - 4 Jan 2024

Torene Rebecca I, Guillen Sacoto Maria J, Millan Francisca, Zhang Zhancheng, McGee Stephen, Oetjens Matthew, Heise Elizabeth, Chong Karen, Sidlow Richard, O'Grady Lauren, Sahai Inderneel, Martin Christa L, Ledbetter David H, Myers Scott M, Mitchell Kevin J, Retterer Kyle

Abstract excerpt

Protein-truncating variants (PTVs) near the 3' end of genes may escape nonsense-mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause Mendelian disease but are difficult to interpret given their varying impact on protein function. Previously, PTVesc burden was assessed in an epilepsy cohort, but no large-scale analysis has systematically evaluated these variants in rare disease. We performed a...

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Identifiers

PMID: 38091987
DOI: 10.1016/j.ajhg.2023.11.007
PMCID: PMC10806863

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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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