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Article

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

American journal of human genetics - 7 May 2026

Lambton James, Asano Shotaro, Huang Yuxiang, Suomi Fumi, Eguchi Tomoya, Petree Cassidy, Huang Kevin, Prigent Magali, Imam Aliza, McCorvie Thomas J, Warren Daniel, Hobson Emma, McCullagh Helen, Misceo Doriana, Bjerre Anna, Smeland Marie F, Klingenberg Claus, Frengen Eirik, Naik Swati, Ryan Gavin, Sudarsanam Annapurna, Foster Katherine, Vasudevan Pradeep, Samanta Rajib, Rahman Fatima, Maqbool Shazia, Udani Vrajesh, Efthymiou Stephanie, Houlden Henry, McFarland Robert, Collier Jack J, Maroofian Reza, Yue Wyatt W, Varshney Gaurav K, Klionsky Daniel J, Legouis Renaud, McWilliams Thomas G, Mizushima Noboru, Oláhová Monika, Alston Charlotte L, Taylor Robert W

Abstract excerpt

Autophagy is an essential developmental and homeostatic process, defined by the endolysosomal degradation of intracellular components and pathogens. Dysfunctional autophagy is implicated in complex human disease, yet reports of congenital autophagy disorders were considered exceedingly rare until the recent report of several unrelated families with bi-allelic variants in the core autophagy effector ATG7,...

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Identifiers

PMID: 41895291
DOI: 10.1016/j.ajhg.2026.03.002
PMCID: PMC13277686

Genes

ATG12
ATG5
ATG7
ATG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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