摘要目的:探讨1例新生儿期确诊的线粒体DNA耗竭综合征13型(MTDPS13)患儿的临床表型及基因变异情况。方法:回顾性分析浙江大学医学院附属儿童医院2023年1月收治的1例患儿的临床资料及基因检测结果。本研究通过了浙江大学医学院附属儿童医院医学伦理委员会的审查(批准号：2023-IRB-0093-P-01)。结果:患儿为男性，因"出生后6 h出现气促、顽固性高乳酸血症"入院，见特殊面容，实验室检查示乳酸> 30 mmol/L，全外显子组测序分析提示其 FBXL4基因存在c.141del纯合移码变异，既往未见报道，其父母均为杂合子。根据美国医学遗传学与基因组学学会相关指南评级为可能致病性。 结论:该例MTDPS13患儿的临床表型以高乳酸血症、特殊面容、生长发育迟缓为特点。 FBXL4基因的c.141del纯合变异可能是其遗传学病因。

abstractsObjective:To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13).Methods:Clinical data and results of genetic testing of a neonate admitted to the Children′s Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children′s Hospital of Zhejiang University(Ethic No.2023-IRB-0093-P-01).Results:The male infant was admitted to the NICU due to tachypnea and persistent lactic acidosis 6 hours after birth. At admission, distinctive facial features were noted. Laboratory tests showed elevated lactic acid (> 30 mmol/L). Whole-exome sequencing revealed that he has harbored homozygous c. 141del frameshift mutation of FBXL4 gene, which was unreported previously. The mutation was inherited from both of his parents and classified as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c. 141del variant of the FBXL4 gene may be accountable.