Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y): Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs, Imre F. Schene, Gautam Kok, Jurriaan M. Jansen, Peter G. J. Nikkels, Koen L. I. van Gassen, Suzanne W. J. Terheggen-Lagro, Saskia N. van der Crabben, Sanne E. Hoeks, Laetitia E. M. Niers, Nicole I. Wolf, Maaike C. de Vries, David A. Koolen, Roderick H. J. Houwen, Margot F. Mulder, Peter M. van Hasselt

Research output: Contribution to journalErratum/CorrigendumAcademicpeer-review

1 Citation (Scopus)


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. 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., 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.
Original languageEnglish
Pages (from-to)2024
JournalGenetics in medicine
Issue number10
Early online date2020
Publication statusPublished - Oct 2021

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