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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2022 Apr 7;109(4):759–763. doi: 10.1016/j.ajhg.2022.03.006

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

Djurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, Constance Smith-Hicks, Trevor L Hoffman, Nicole I Wolf, Renske Oegema, Ellen van Binsbergen, Berivan Baskin, Geneviève Bernard, Sébastien Fribourg, Benoit Coulombe, Grace Yoon
PMCID: PMC9069058  PMID: 35395209

(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 2.

Figure 2

Different POLR3B de novo variants distinctively affect the assembly of specific RNA polymerase III subunits (corrected)

Figure 2.

Figure 2

Different POLR3B de novo variants distinctively affect the assembly of specific RNA polymerase III subunits (original)

Figure 3.

Figure 3

De novo POLR3B variants differ from known recessive POLR3B pathogenic variants (corrected)

Figure 3.

Figure 3

De novo POLR3B variants differ from known recessive POLR3B pathogenic variants (original)

Figure S3.

Figure S3

POLR3B de novo mutations do not appear to affect protein localization (corrected)

Figure S3.

Figure S3

POLR3B de novo mutations do not appear to affect protein localization (original)


Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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