Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

ABSTRACT:

Objective

To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.

Methods

We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient.

Results

Each patient presented between 1 and 3 months of age with failure to thrive, severe dysphagia, and developmental delay. Four of the 6 children died before ag

SUBMITTER: Perrier S 

PROVIDER: S-EPMC7238899 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature