A novel missense mutation of CMT2P alters transcription machinery.

ABSTRACT:

Objective

Charcot-Marie-Tooth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3 ligase). This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic mechanisms of CMT2P.

Methods

Patients with CMT2P were characterized clinically, electrophysiologically, and genetically. A neuronal model with the LRSAM1 mutation was created using CRISPR/Cas9 technology. The neuronal cell line along with fibroblasts isolated from the patients was used to study RNA-binding proteins.

Results

This American family with dominantly inherited axonal polyneuropathy reveals a phenotype similar to those in previously reported non-US families. The affected members in our family cosegregated with a novel missense

SUBMITTER: Hu B 

PROVIDER: S-EPMC5177458 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature