TY - JOUR
T1 - Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y)
T2 - Aminoacyl-tRNA synthetase deficiencies in search of common themes
AU - Fuchs, Sabine A.
AU - Schene, Imre F.
AU - Kok, Gautam
AU - Jansen, Jurriaan M.
AU - Nikkels, Peter G. J.
AU - van Gassen, Koen L. I.
AU - Terheggen-Lagro, Suzanne W. J.
AU - van der Crabben, Saskia N.
AU - Hoeks, Sanne E.
AU - Niers, Laetitia E. M.
AU - Wolf, Nicole I.
AU - de Vries, Maaike C.
AU - Koolen, David A.
AU - Houwen, Roderick H. J.
AU - Mulder, Margot F.
AU - van Hasselt, Peter M.
PY - 2021/10
Y1 - 2021/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85090986401&partnerID=8YFLogxK
U2 - https://doi.org/10.1038/s41436-020-00966-1
DO - https://doi.org/10.1038/s41436-020-00966-1
M3 - Erratum/Corrigendum
C2 - 32934367
SN - 1098-3600
VL - 23
SP - 2024
JO - Genetics in medicine
JF - Genetics in medicine
IS - 10
ER -