目的　探讨PMPCB基因变异导致多发性线粒体功能障碍综合征6型（MMDS6）的临床表型和基因变异特点。 方法　回顾分析1例MMDS6患儿的临床资料，并结合文献进行复习。结果　患儿，男， 5月龄。表现为体质量不增、喂养 困难、运动发育倒退、四肢肌张力低，伴高乳酸血症、心力衰竭。心脏彩超示肺动脉高压。全外显子和线粒体基因测序显示 PMPCB基因c.524G>A纯合核苷酸变异，父母均为杂合子，该纯合变异尚未见文献报道。结论　PMPCB基因c.524G>A 纯合核苷酸变异是MMDS6的致病变异。二代基因测序有助于基因型诊断。

　Objectives　To investigate the clinical and PMPCB genetic mutation features of multiple mitochondrial dysfunctions syndrome 6 (MMDS6). Methods　The clinical data of a case with MMDS6 were retrospectively analyzed and related literature was reviewed. Results　A 5-months-old boy presented with poor weight gain and feeding difficulty, delayed motor development and hypotonia, with lactic acidosis and heart failure. Echocardiography showed pulmonary hypertension. A homozygous nucleotide variation of c.524G>A in PMPCB gene was found through whole-exome and mitochondrial genome sequencing analysis, which has not been reported before in literature and both parents were heterozygotes. Conclusion　The homozygous nucleotide variation c.524G>A in PMPCB gene was pathogenic variants for MMDS6. Next-generation sequencing may provide diagnosis for the disease.