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Article

Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population.

Clinica chimica acta; international journal of clinical chemistry - 15 May 2026

Liu Xiaoli, Guo Ruolan, Qi Zhan, Zhang Yaodong, Ren Xiaotun, Li Wei, Hu Xuyun, Hao Chanjuan

Abstract excerpt

BACKGROUND: Vanishing White Matter disease (VWM) is a rare autosomal recessive leukoencephalopathy caused by biallelic variants in any of the five subunits of eukaryotic initiation factor 2B (EIF2B1-5), with varied clinical manifestations, including progressive neurological deterioration, cerebellar ataxia, and white matter abnormalities on MRI. Early and accurate diagnosis is crucial for medical interventions...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41791694
DOI: 10.1016/j.cca.2026.120942

Genes

EIF2B1
EIF2B2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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