Abstract

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H⁺ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.

摘要

SLC25A22 （溶质载体家族 25，成员 22）基因编码线粒体谷氨酸/H ⁺同向转运体，并参与代谢物穿过线粒体膜的线粒体转运。我们在此报告一名 12 岁女孩，她出现早发性癫痫性脑病、肌张力减退和整体发育迟缓。全外显子组测序确定了SLC25A22基因中的一种新的纯合错义突变（c.97A> G；p.Lys33Glu），可能是该疾病的原因。我们患者的表型和脑电图记录与之前描述的表型不完全重叠，导致与SLC25A22相关的新的和更复杂的疾病形式变体，以运动障碍和眼危象为特征。