Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

The original article was published on 06 June 2018

Correction to: Genetics in Medicine 21:2019; https://doi.org/10.1038/s41436-018-0048-y, published online 06 June 2018

The reported QARS deficient patient carries the QARS1 mutation (NM_005051.2) c.793C>T p.(Arg265Cys and not Arg25Cys).

In addition, in Fig. 5, the reported p.Lys476* in QARS1 should have been p.Lys496* (Kodera H, Osaka H, Iai M, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97–101. https://doi.org/10.1038/jhg.2014.103).

Finally, we have been informed that the patient described by Datta et al. (Datta A, Ferguson A, Simonson C, et al. Case report: QARS deficiency and favorable outcome following treatment of seizures with ketogenic diet. J Child Neurol. 2017;32(4):403–407. https://doi.org/10.1177/0883073816685508) is the same patient previously published by Salvarinova et al. (Salvarinova R, Ye CX, Rossi A, et al. Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. Neurogenetics. 2015;16(2):145–149. https://doi.org/10.1007/s10048-014-0432-y), and this patient is compound heterozygous for the nonsense variant c.1387C>T (p.Arg463*) and the missense variant c.2226G>C (p.Gln742His).

These points have now been corrected in both the PDF and HTML versions of the Article.

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Correspondence to Sabine A. Fuchs MD, PhD.

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Fuchs, S.A., Schene, I.F., Kok, G. et al. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes. Genet Med (2020). https://doi.org/10.1038/s41436-020-00966-1

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