Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and pontocerebellar hypoplasias (PCH). To date, loss-of-function variants in AIMP1 have been associated with hypomyelinating leukodystrophy-3 (MIM 260600). Here, we report a novel frameshift AIMP1 homozygous variant (c.160delA,p.Lys54Asnfs) in a child with pontocerebellar hypoplasia and simplified gyral pattern, a phenotype not been previously described with AIMP1 variants, thus expanding the phenotypic spectrum. AIMP1 should be included in diagnostic PCH gene panels.

中文翻译：

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AIMP1中的致病变异会导致脑小脑发育不全。

与氨酰基-tRNA合成酶相互作用的多功能蛋白1（AIMP1）是多tRNA合成酶复合物的非催化成分，可催化氨基酸与正确的tRNA的连接。几种氨酰基-tRNA合成酶基因的致病变异与多种神经系统疾病有关，包括白细胞营养不良和桥小脑发育不全（PCH）。迄今为止，AIMP1中功能丧失的变异体已经与髓鞘性白细胞缺乏症3（MIM 260600）发生关联。在这里，我们报告一个新型的移码AIMP1纯合变异体（c.160delA，p.Lys54Asnfs）在一个小脑小脑发育不全和简化的回旋模式的儿童中，该表型以前没有用AIMP1变异体描述过，从而扩展了表型谱。AIMP1 应该包括在诊断性PCH基因组中。