ArticlePloS one2015
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.Journal of neurology · 2023Observational
- Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.Italian journal of pediatrics · 2022Article
- Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Identification of a Novel Heterozygous Mutation in theFrontiers in bioengineering and biotechnology · 2022Article
- Vanishing white matter disease with different faces.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.Annals of rehabilitation medicine · 2019Article
- Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.European journal of human genetics : EJHG · 2018Article
- Similarities and differences between infantile and early childhood onset vanishing white matter disease.Journal of neurology · 2018Article
- Article
- Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.The Journal of biological chemistryArticle
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited childhood white matter disorders, which caused by mutations in each of the five subunits of eukaryotic translation initiation factor 2B (EIF2B1-5). In our study, 34 out of the 36 clinically diagnosed children (94%) were identified to have EIF2B1-5 mutations by sequencing. 15 novel mutations were identified. CNVs were not detected in patients with only one mutant allele and mutation-negative determined by gene sequencing. There is a significantly higher incidence of patients with EIF2B3 mutations compared with Caucasian patients (32% vs. 4%). c.1037T>C (p.Ile346Thr) in EIF2B3 was confirmed to be a founder mutation in Chinese, which probably one of the causes of the genotypic differences between ethnicities. Our average 4.4 years-follow-up on infantile, early childhood and juvenile VWM children suggested a rapid deterioration in motor function. Episodic aggravation was presented in 90% of infantile cases and 71.4% of childhood cases. 10 patients died during the follow-up. The Kaplan-Meier curve showed that the median survival time is 8.83 ± 1.51 years. This is the largest sample of children in a VWM follow-up study, which is helpful for a more depth understanding about the natural course.
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