Page 30 - Read Online

Page 68 Franz et al. J Transl Genet Genom 2020;4:50-70 I https://doi.org/10.20517/jtgg.2020.13

139. Vincent C, Tarbouriech N, Hartlein M. Genomic organization, cDNA sequence, bacterial expression, and purification of human seryl-
tRNA synthase. Eur J Biochem 1997;250:77-84.
140. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a
progressive neurodevelopmental epileptic encephalopathy. Nat Commun 2019;10:707.
141. Hsieh SL, Campbell RD. Evidence that gene G7a in the human major histocompatibility complex encodes valyl-tRNA synthetase.
Biochem J 1991;278:809-16.
142. Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, et al. Genes that affect brain structure and function identified by rare variant
analyses of mendelian neurologic disease. Neuron 2015;88:499-513.
143. Okur V, Ganapathi M, Wilson A, Chung WK. Biallelic variants in VARS in a family with two siblings with intellectual disability and
microcephaly: case report and review of the literature. Cold Spring Harb Mol Case Stud 2018;4:a003301.
144. Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, et al. Biallelic VARS variants cause developmental encephalopathy
with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun 2019;10:708.
145. Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, et al. Loss of function mutations in VARS encoding cytoplasmic valyl-
tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. Hum Genet 2018;137:293-303.
146. Datta A, Ferguson A, Simonson C, Zannotto F, Michoulas A, et al. Case report. J Child Neurol 2017;32:403-7.
147. Kodera H, Osaka H, Iai M, Aida N, Yamashita A, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic
encephalopathy. J Hum Genet 2015;60:97-101.
148. Leshinsky-Silver E, Ling J, Wu J, Vinkler C, Yosovich K, et al. Severe growth deficiency, microcephaly, intellectual disability, and
characteristic facial features are due to a homozygous QARS mutation. Neurogenetics 2017;18:141-6.
149. Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, et al. Expansion of the QARS deficiency phenotype with report of a family with
isolated supratentorial brain abnormalities. Neurogenetics 2015;16:145-9.
150. Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, et al. A newly recognized syndrome of severe growth deficiency,
microcephaly, intellectual disability, and characteristic facial features. Eur J Med Genet 2014;57:288-92.
151. Zhang X, Ling J, Barcia G, Jing L, Wu J, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive
microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 2014;94:547-58.
152. Basit S, Lee K, Habib R, Chen L, Umm-e-Kalsoom, et al. DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus
on chromosome 16q21-q23.2. Hum Genet 2011;129:379-85.
153. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, et al. High-throughput discovery of novel developmental phenotypes. Nature
2016;537:508-14.
154. Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, et al. A comprehensive genomic analysis reveals the genetic landscape of
mitochondrial respiratory chain complex deficiencies. PLoS Genet 2016;12:e1005679.
155. McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase
mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010;87:560-6.
156. McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, et al. Congenital Visual impairment and progressive
microcephaly due to Lysyl-transfer ribonucleic acid (RNA) synthetase (KARS) mutations: the expanding phenotype of aminoacyl-
transfer RNA synthetase mutations in human disease. J Child Neurol 2015;30:1037-43.
157. Murray CR, Abel SN, McClure MB, Foster J, Walke MI, et al. Novel causative variants in DYRK1A, KARS, and KAT6A associated with
intellectual disability and additional phenotypic features. J Pediatr Genet 2017;6:77-83.
158. Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause
autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 2013;93:132-40.
159. Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C, et al. Toward the full set of human mitochondrial aminoacyl-tRNA
synthetases: characterization of AspRS and TyrRS. Biochemistry 2005;44:4805-16.
160. Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, et al. PARS2 and NARS2 mutations in infantile-onset neurodegenerative
disorder. J Hum Genet 2017;62:525-9.
161. Seaver LH, DeRoos S, Andersen NJ, Betz B, Prokop J, et al. Lethal NARS2-related disorder associated with rapidly progressive
intractable epilepsy and global brain atrophy. Pediatr Neurol 2018;89:26-30.
162. Simon M, Richard EM, Wang X, Shahzad M, Huang VH, et al. Mutations of human NARS2, encoding the mitochondrial asparaginyl-
tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet 2015;11:e1005097.
163. Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, et al. Whole exome sequencing reveals mutations in NARS2 and PARS2,
encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol Genet
Genomic Med 2015;3:59-68.
164. Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, et al. Two siblings with homozygous pathogenic splice-site variant in
mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat 2015;36:222-31.
165. Ciara E, Rokicki D, Lazniewski M, Mierzewska H, Jurkiewicz E, et al. Clinical and molecular characteristics of newly reported
mitochondrial disease entity caused by biallelic PARS2 mutations. J Hum Genet 2018;63:473-85.
166. Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA
synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007;81:857-62.
167. Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, et al. New perspective in diagnostics of mitochondrial disorders:
two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med 2016;14:174.
168. Yin X, Tang B, Mao X, Peng J, Zeng S, et al. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. J