Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

ABSTRACT:

Background

Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predominantly demyelinating sensorimotor peripheral neuropathy.

Methods

We performed whole-exome sequencing (WES) of DNA samples from 804 Charcot-Marie-Tooth (CMT) cases that could not be genetically diagnosed by DNA-targeted resequencing microarray using next-generation sequencers. Using WES data, we analyzed the POLR3B mutations and confirmed their clinical features.

Results

We identified de novo POLR3B heterozygous missense mutations in two patients. These patients presented with early-onset demyelinating sensorimotor neuropathy without

SUBMITTER: Ando M 

PROVIDER: S-EPMC9082381 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature