Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.

ABSTRACT:

Background

The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders.

Methods

The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2-3.

Results

Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were found

SUBMITTER: Dong L 

PROVIDER: S-EPMC10658925 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature