Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.

ABSTRACT: Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nuclear genes. This study aimed to identify the causative mutations in mitochondrial-related nuclear genes in suspected hereditary peripheral neuropathy patients. We enrolled a large Japanese cohort of clinically suspected hereditary peripheral neuropathy patients who were mutation negative in the prescreening of the known Charcot-Marie-Tooth disease-causing genes. We performed whole-exome sequencing on 247 patients with autosomal recessive or sporadic inheritance for further analysis of 167 mitochondrial-related nuclear genes. We detected novel bi-allelic likely pathogenic/pathogenic var

SUBMITTER: Hiramatsu Y 

PROVIDER: S-EPMC9293870 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature