: leukoencephalopathy with vanishing white matter, EIF2B3 gene, mutation, exome-sequencing

Abstract

 Leukodystrophies are rare genetic disorders that affect the brain's white matter, making diagnosis and management difficult. One type, leukoencephalopathy with vanishing white matter, shows a variety of neurological symptoms with different levels of severity. Advances in diagnostics, like identifying genetic mutations in the EIF2B gene family, help uncover the genetic mechanisms behind the condition. In this case, a 5-year-old Iraqi boy with prenatal symptoms, including seizures, intrauterine growth retardation, decreased movements, and oligohydramnios, was examined through exome-sequencing and magnetic resonance imaging. A novel mutation (hg38: chr1-44941633-T-C; c.327A>G; p.Ile109Met) in exon 4 of the EIF2B3 gene was identified, causing a substitution of Isoleucine with Methionine. In silico analysis predicted the potential effects of this mutation. This case highlights the significance of finding a novel mutation, contributing to the understanding of vanishing white matter genetics and showing how advanced sequencing techniques can improve diagnostics and personalised treatments for genetic disorders.