Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

ABSTRACT:

Background

Periaxins (encoded by PRX) play an important role in the stabilization of peripheral nerve myelin. Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F (CMT4F).

Methods

In this study, we screened for PRX mutations using next-generation sequencing and whole-exome sequencing in a large Chinese CMT cohort consisting of 465 unrelated index patients and 650 healthy controls. Sanger sequencing was used for the validation of all identified variants. We also reviewed all previously reported PRX-related CMT cases and summarized the clinical manifestations and genetic features of PRX-related CMTs.

Results

The hit rate for biallelic PRX variants in our cohort of Chinese CMT patients was 0.43% (2/465). One patient c

SUBMITTER: Ma X 

PROVIDER: S-EPMC10352492 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature