To investigate the impact of NSF gene mutations on human nervous system development. A retrospective analysis of the clinical data of a case of NSF gene mutation was conducted，along with a review of relevant literature.The patient was a male infant who presented with symptoms at 3 months of age.He experienced frequent vomiting，followed by developmental regression and global developmental delay，accompanied by abnormal posture.Cranial magnetic resonance imaging revealed bilateral globus pallidus lesions.Genetic testing identified a de novo mutation in the NSF gene，specifically chr17：44668141-44772028，gain1（exon：1-12）duplication.Considering the highly conserved nature of the NSF gene and its high expression in the nervous system of eukaryotes，along with the severe neurological impairment observed in this case，the mutation was considered pathogenic.NSF gene mutations may lead to developmental disorders of the human nervous system and affect brain function.Such mutations are rarely reported in human being，and the specific mutation identified in this patient has not been previously documented.This case expands the spectrum of NSF gene mutations and enhances the understanding of the pathogenicity of NSF gene mutations.

NSF gene, de novo mutation, developmental delay, globus pallidus lesion

回顾性分析1例 NSF 基因突变患儿临床资料，复习相关文献，以探讨 NSF 基因突变在人类神经系统发育中的影响。患儿男，3月龄发病，临床表现为频繁呕吐，后出现发育倒退、全面性发育迟缓，伴姿势异常，头颅磁共振成像提示双侧苍白球病变，基因检测发现患儿 NSF 基因存在新发突变，为 chr17 ：44668141-44772028，gain1（exon：1-12）单倍重复。结合 NSF 具有高度保守的特征，且在真核生物神经系统中高度表达，而该病例存在严重的神经系统受损的表现，故考虑为致病性变异。NSF 基因变异可能导致人类神经系统发育障碍，影响大脑功能，该基因变异在人类中报道极少，该患儿基因变异既往也未见报道，扩充了 NSF 基因变异谱，提高了对 NSF 基因变异致病性的认识。

NSF 基因, 新发突变, 发育落后, 苍白球病变