New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.

ABSTRACT:

Aim

Leukodystrophies are a group of inherited white matter disorders with clinical, genetic, and imaging heterogeneity, which usually pose a diagnostic challenge for physicians. We aimed to identify new clinical characteristics and novel pathogenic variants of hereditary leukodystrophies in this study.

Methods

Whole exome sequencing (WES) was performed in 28 unrelated patients clinically suspected with leukodystrophies. Leukocytes enzyme activity test, electroencephalogram (EEG), electromyography (EMG), and brain MRI were conducted. Functional analysis was performed, and the pathogenicity of variants was classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.

Results

We made definite diagnosis in 8 probands with 1

SUBMITTER: Xie JJ 

PROVIDER: S-EPMC7163788 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature