ATAD3A is a mitochondrial AAA + ATPase protein localized between the inner and outer mitochondrial membrane¹; its role includes the stabilization of mitochondrial DNA, the regulation of mitochondrial fission/fusion, and the regulation of cholesterol homeostasis.^1,2 Harel-Yoon syndrome (HYS) can result from biallelic deletions in the ATAD3 gene cluster (containing ATAD3A, ATAD3B, and ATAD3C) and is associated with cerebellar and brainstem atrophy, hypotonia, encephalopathy, and death in the first days and weeks of life.^3,4 A less severe presentation has been reported in those with biallelic missense variants.^4,5 This attenuated form of HYS presents with developmental delay, cataracts, seizures, and optic and cerebellar atrophy with individuals living into adulthood.^4,5 The findings are consistent with a genotype-phenotype correlation based on the variant type.^6,7

ATAD3A是线粒体AAA + ATPase蛋白，位于线粒体内外膜^1之间; 它的作用包括线粒体DNA的稳定，线粒体裂变/融合的调节以及胆固醇稳态的调节。^1,2 Harel-Yoon综合征（HYS）可以由ATAD3基因簇中的双等位基因缺失导致（包含ATAD3A，ATAD3B和ATAD3C），并与小脑和脑干萎缩，肌张力低下，脑病以及在头几天和几周内死亡有关生活。^3,4据报道，双等位基因错义变体的症状较轻。^4,5这种减毒形式的HYS会导致发育迟缓，白内障，癫痫发作以及视神经和小脑萎缩，并成年后生活。^4,5的发现与基于变异类型的基因型-表型相关性一致。^6,7