Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17) in a patient with Parkinson's disease and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues. These findings suggest for the first time a possible link between Parkinson's Disease and SLC25A46 mutations. Replication in additional studies is needed to conclusively prove this link.

中文翻译：

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帕金森氏病和视神经萎缩患者的SLC25A46突变。

已知编码线粒体载体蛋白SLC25A46的基因中的突变会引起与周围神经病变和先天性小脑发育不全相关的视神经萎缩。我们在患有帕金森氏病和视神经萎缩的患者中发现了新的双等位基因SLC25A46突变（p.H137R，p.A401Sfs * 17）。筛查了6名无关的帕金森氏症和视神经萎缩患者，这使我们能够在第二名患者中鉴定出另外两个突变（p.A176V，p.K256R）。预测所有鉴定出的变体可能致病，并影响非常保守的蛋白质残基。这些发现首次提示帕金森氏病和SLC25A46突变之间可能存在联系。需要在其他研究中进行复制才能最终证明此链接。