Compound heterozygosity

Phenotype

Transfer RNA

Pediatrics

Epilepsy

Performance art

Nonsense

Biology

Nonsense mutation

Gene

Psychiatry

Ketogenic diet

Aminoacyl tRNA synthetase

Mutation

Art history

Missense mutation

Genetics

Medicine

Genetics in Medicine

The original article can be found online at https://doi.org/10.1038/s41436-018-0048-y. Correction to: Genetics in Medicine21:2019; 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. These authors contributed equally: Imre F. Schene, Gautam Kok. Aminoacyl-tRNA synthetase deficiencies in search of common themesGenetics in MedicineVol. 21Issue 2PreviewPathogenic variations in genes encoding aminoacyl-tRNA synthetases(ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care. Full-Text PDF Open Archive

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