Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

1. Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.16420418767960 Open DOISearch in Google Scholar

2. Wang L, Li Z, Sievert D et al. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun 11, 4038 (2020). https://doi.org/10.1038/s41467-020-17454-4.742452932788587 Search in Google Scholar

3. Jumper J, Evans R, Pritzel A et al. Highly accurate protein structure prediction with AlphaFold. Nature, 2021, 596, 583-589. https://doi.org/10.1038/s41586-021-03819-2.837160534265844 Search in Google Scholar

4. Karczewski KJ, Francioli LC, Tiao G et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-43. https://doi.org/10.1038/s41586-020-2308-7.733419732461654 Search in Google Scholar

5. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. https://doi.org/10.1038/gim.2015.30.454475325741868 Search in Google Scholar

6. Manole A, Efthymiou S, O’Connor E et al. De Novo and Biallelic Pathogenic Variants in NARS1 Cause Neurodevelop-mental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020;107(2):311-24. doi: 10.1016/j.ajhg.2020.06.016.741389032738225 Open DOISearch in Google Scholar