目的　探讨peroxin 1（PEX1）复合杂合突变致过氧化物酶体生物发生缺陷病（PBD）的临床及基因特征。方 法　回顾分析1例PBD患儿的临床资料，并复习相关文献。结果 　患儿，男， 4岁6个月，智力发育迟缓，无其他明显异常。 基因检测发现患儿PBD相关PEX1基因存在2个尚未报道的杂合突变，c.539A>C（p.Lys180Thr）和c.2704_2708delTTTAT （p.Phe902fs），符合常染色体隐性遗传模式。确诊为PBD1B型。结论　PBD患者临床表型多样，其严重程度与PEX1基因 的突变类型有关，基因检测可确诊。

Objective　To explore the clinical and genetic characteristics of peroxisome biogenic disorders (PBD) caused by peroxin 1 (PEX1) complex heterozygous mutation. Method　The clinical data of PBD in a child were retrospectively analyzed and the related literature was reviewed. Results　A 4-years- and 6-months-old boy had mental retardation and no other obvious abnormalities. Gene detection found that there were two unreported heterozygous mutations in PBD related PEX1 gene in children, c.539A> c (p.lys180thr) and c.2704_2708delTTTAT (p.phe902fs), which were consistent with the autosomal recessive genetic pattern. The child was therefore diagnosed with PBD1B. Conclusions　The clinical phenotype of patients with PBD was diverse, and its severity was related to the mutation type of PEX1 gene. Genetic testing could confirm the diagnosis.