Background Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure. To date, approximately 40 cases have been reported related to AARS2 mutations, while its genetic and phenotypic spectrum remains to be defined. Case presentation We identified a 24-year-old Chinese female patient with adult-onset leukoencephalopathy carrying novel compound heterozygous pathogenic mutations in the AARS2 gene (c.718C > T and c.1040 + 1G > A) using a whole-exome sequencing approach. Conclusions Our findings further extend the mutational spectrum of AARS2-related leukoencephalopathy and highlight the importance of the whole-exome sequencing in precisely diagnosing adult-onset leukoencephalopathies.
第一作者机构：[1]Liaocheng Peoples Hosp, Dept Neurol, Liaocheng, Shandong, Peoples R China
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推荐引用方式(GB/T 7714)：
Fan Yan,Han Jinming,Yang Yanyan,et al.Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy[J].BMC NEUROLOGY.2022,22(1):doi:10.1186/s12883-022-02720-3.
APA：
Fan, Yan,Han, Jinming,Yang, Yanyan&Chen, Tuanzhi.(2022).Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.BMC NEUROLOGY,22,(1)
MLA：
Fan, Yan,et al."Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy".BMC NEUROLOGY 22..1(2022)
