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A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.

Journal of genetics - 1 Jan 2023

Nourmohammadi Parisa, Asadollahi Mostafa, Karamzade Arezou, Eshaghkhani Yeganeh, Babaei Meisam, Golchehre Zahra, Taheri Seyedeh Roksana, Hasani Sepideh, Taghizadeh Mahdieh, Keramatipour Mohammad

Abstract excerpt

Vanishing of white matter (VWM) is a hereditary heterogeneous brain disorder that most often affects children. However, the onset of the disease varies from childhood to adulthood. VWM is caused by mutations in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. In the current study, we aimed to determine the genetic cause of VWM in a large consanguineous Iranian family with three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37674283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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