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Article

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

Journal of medical genetics - 1 Dec 2020

Cabrera-Serrano Macarena, Coote David Joseph, Azmanov Dimitar, Goullee Hayley, Andersen Erik, McLean Catriona, Davis Mark, Ishimura Ryosuke, Stark Zornitza, Vallat Jean-Michel, Komatsu Masaaki, Kornberg Andrew, Ryan Monique, Laing Nigel G, Ravenscroft Gina

Abstract excerpt

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with UBA5 pathogenic variants including epilepsy, intellectual disability, movement disorders and ataxia. METHODS AND RESULTS: We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death...

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Identifiers

PMID: 32179706
DOI: 10.1136/jmedgenet-2019-106496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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