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Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease
- Source :
- Frontiers in Bioengineering and Biotechnology, Vol 10 (2022)
- Publication Year :
- 2022
- Publisher :
- Frontiers Media S.A., 2022.
-
Abstract
- Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM. In this study, a targeted gene capture sequencing panel comprising 160 known pathogenic genes associated with leukoencephalopathies was performed in a large Han Chinese family affected by adult-onset VWM, and a novel heterozygous missense mutation (c.1337G > A [p. R446H]) in EIF2B4 (NM_001034116.2) was detected. Further functional studies in HEK 293 cells showed dramatically reduced EIF2Bδ protein levels in the mutated group compared with the wild-type group. This study revealed that a heterozygous missense mutation (c.1337G > A [p. R446H]) in EIF2B4 was potentially associated with the adult-onset mild phenotype of VWM. In contrast to previous reports, autosomal dominant inheritance was also observed in adult-onset VWM.
Details
- Language :
- English
- ISSN :
- 22964185
- Volume :
- 10
- Database :
- Directory of Open Access Journals
- Journal :
- Frontiers in Bioengineering and Biotechnology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.4462d486707e44be93198e0514ffcb5f
- Document Type :
- article
- Full Text :
- https://doi.org/10.3389/fbioe.2022.901452