Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Masahiro AndoYujiro HiguchiJun-Hui YuanAkiko YoshimuraRuriko KitaoTakehiko MorimotoTakaki TaniguchiMika TakeuchiJun TakeiYu HiramatsuYusuke SakiyamaAkihiro HashiguchiYuji OkamotoJun MitsuiHiroyuki IshiuraShoji TsujiHiroshi TakashimaPublished in: Annals of clinical and translational neurology (2022)
Our study is the third report on patients with demyelinating CMT harboring heterozygous POLR3B mutations and verifies the pathogenicity of POLR3B mutations in CMT. Although extremely rare in our large Japanese case series, POLR3B mutations should be added to the CMT-related gene panel for comprehensive genetic screening, particularly for patients with early-onset demyelinating CMT.