Marten Lara M, Brinkert Florian, Smith Desirée E C, Prokisch Holger, Hempel Maja, Santer René
Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Department of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Mol Genet Metab Rep. 2020 Nov 22;25:100681. doi: 10.1016/j.ymgmr.2020.100681. eCollection 2020 Dec.
AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the gene, p.[Leu298Gln];[Arg751Gly]), whose functional relevance was demonstrated by decreased enzymatic activity in fibroblasts. This is the first report that shows that variants may be associated with recurrent acute liver failure.
AARS1缺陷属于影响氨酰-tRNA合成酶的疾病组。迄今为止，AARS1缺陷仅与神经系统疾病有关。我们报告了一名患有小头畸形和发育迟缓的6岁女孩，她反复出现急性肝衰竭发作。全外显子组测序揭示该基因内两个错义变体的复合杂合性（p.[Leu298Gln];[Arg751Gly]），成纤维细胞中酶活性降低证明了其功能相关性。这是第一份表明这些变体可能与复发性急性肝衰竭相关的报告。
