Genetic analysis of adult leukoencephalopathy patients using whole exon sequencing

Abstract

Background: Leukoencephalopathies comprise all clinical syndromes predominantly affecting the white matter of the brain. Genetic diagnosis might help determine adequate management for these patients, but the genetic contribution to adult leukoencephalopathy patients has been barely assessed. Previously, we analyzed 70 patients with adult leukoencephalopathy patients using custom-designed exon capture library targeted to 55 leukoencephalopathy-related genes followed by massively parallel sequencing and diagnosed seven patients as having pathological mutations in NOTCH3, EIF2B2 or POLR3A.