NSF 基因, 新发突变, 发育落后, 苍白球病变

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