Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development, intractable seizures, and early death. We identified biallelic DPM2 variants in a 23-year-old male with truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting. His clinical presentation was much less severe than that of the three previously described patients. This is the second report on this ultra-rare disorder. Here we review the characteristics of previously reported individuals with a defect in the DPM complex while expanding the clinical phenotype of DPM2-Congenital Disorders of Glycosylation. In addition, we offer further insights into the pathomechanism of DPM2-CDG disorder by introducing glycomics and lipidomics analysis.

DPM2基因的致病性改变先前已在肌张力减退、进行性肌肉无力、精神运动发育缺失、顽固性癫痫发作和过早死亡的患者中描述过。我们在一名患有躯干肌张力减退、高渗、先天性心脏缺陷、智力障碍和全身肌肉萎缩的 23 岁男性中发现了双等位基因DPM2变异。他的临床表现远没有前面描述的三名患者严重。这是关于这种极其罕见的疾病的第二份报告。在这里，我们回顾了先前报道的 DPM 复合体缺陷个体的特征，同时扩展了DPM2的临床表型-先天性糖基化障碍。此外，我们通过引入糖组学和脂质组学分析，进一步深入了解 DPM2-CDG 疾病的发病机制。