De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

(The American Journal of Human Genetics 108, 186–193; January 7, 2021) In the originally published version of this article, there is a typographical error for the variant c.3137G>A (p.Arg1046His) present in subject 3. This was inadvertently described as p.Arg1064His in Figures 2, 3, and S3, which appear corrected here and have been corrected in the online version of the article. The authors apologize for the error.Figure 2Different POLR3B de novo variants distinctively affect the assembly of specific RNA polymerase III subunits (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3De novo POLR3B variants differ from known recessive POLR3B pathogenic variants (corrected)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3De novo POLR3B variants differ from known recessive POLR3B pathogenic variants (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure S3POLR3B de novo mutations do not appear to affect protein localization (corrected)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure S3POLR3B de novo mutations do not appear to affect protein localization (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT) De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathyDjordjevic et al.The American Journal of Human GeneticsJanuary 07, 2021In BriefPOLR3B encodes the second-largest catalytic subunit of RNA polymerase III, an enzyme involved in transcription. Bi-allelic pathogenic variants in POLR3B are a well-established cause of hypomyelinating leukodystrophy. We describe six unrelated individuals with de novo missense variants in POLR3B and a clinical presentation substantially different from POLR3-related leukodystrophy. These individuals had afferent ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy. Full-Text PDF Open Archive