Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

被引：6

作者：

Marten, Lara M. ^{[1
]}

Brinkert, Florian ^{[1
]}

Smith, Desiree E. C. ^{[2
]}

Prokisch, Holger ^{[3
]}

Hempel, Maja ^{[4
]}

Santer, Rene ^{[1
]}

机构：

[1] Univ Med Ctr Eppendorf, Dept Pediat, Hamburg, Germany

[2] Univ Amsterdam, Med Ctr, Dept Clin Chem, Amsterdam, Netherlands

[3] Tech Univ Munich, Inst Human Genet, Munich, Germany

[4] Univ Med Ctr Eppendorf, Inst Human Genet, Hamburg, Germany

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2020年 / 25卷

关键词：

Recurrent acute liver failure; Protein biosynthesis; Aminoacylation; AARS1; Metabolic disease; MUTATIONS CAUSE; DISEASE; ONSET;

D O I：

10.1016/j.ymgmr.2020.100681

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 micmcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the AARS1 gene, p.[Leu298Gln];[Arg751-Gly]), whose functional relevance was demonstrated by decreased enzymatic activity in fibroblasts. This is the first report that shows that AARS1 variants may be associated with recurrent acute liver failure.

引用

页数：3

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