关键词: PARS2基因, 全面发育迟缓, 发育性癫痫性脑病, 致病基因

Abstract: Analyze the clinical and molecular genetic characteristics of PARS2-related developmental and epileptic encephalopathy. Clinical，imaging and genetic data of one patient with PARS2-related developmental and epileptic encephalopathy were retrospectively analyzed. Summarize clinical and genetic characteristics of this disorder based on literature review. The 9-month old boy was admitted to the Department of Pediatrics of Peking University First Hospital in January 2022 for "repeated convulsions for 3 months". They were followed up for eight months and global developmental delay，hypotonia and microcephaly were observed.  A total of 20 patients were analyzed. The main clinical manifestations included onset during the first six months of age，global developmental delay，spasm，hypotonia，microcephaly，cortical atrophy with obvious frontal involvement and abnormal hyperintensities around the cerebellar dentate nuclei and cardiac involvement. A total of 11 pathogenic variants were reported，and the most common variants were c. 283G > A （ 42.3 % ） and c. 1091C > G （ 19.2 % ）. For children with global developmental delay and spasm during the first six months of age，when they had hypotonia，microcephaly，cortical atrophy with obvious frontal involvement and  abnormal hyperintensities around the cerebellar dentate nuclei and cardiac involvement，PARS2-related developmental and epileptic encephalopathy should be considered. The c. 283G > A （ 42.3 % ） and c. 1091C > G （ 19.2 % ） were two high frequency pathogenic variants.

Key words: PARS2 gene, global developmental delay, developmental and epileptic encephalopathy, pathogenic gene