目的:探讨1个疑似线粒体病家系的遗传学病因。方法:收集患者及其家系成员的临床资料；抽取家系成员外周血，应用二代测序进行家系全外显子组、基因组拷贝数变异和线粒体基因组检测，对候选基因变异位点进行Sanger测序验证。结果:全外显子组家系检测发现患儿存在n NDUFS1基因父源c.64C>T(p.R22X)和母源c.845A>G (p.N282S)复合杂合变异，二者均可能导致蛋白功能丧失。基因组拷贝数变异和线粒体基因组检测未发现致病变异。n 结论:疑似线粒体病的患儿可能缺少特异性的临床表型，包含线粒体DNA检测在内的综合性基因检测策略有助于及早明确诊断和治疗干预。“,”Objective:To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.Methods:Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.Results:Trio-WES revealed that the proband has carried compound heterozygous variants of the n NDUFS1 gene, including a paternally derived c. 64C>T (p.R22X) nonsense variant and a maternally derived c. 845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.n Conclusion:Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.