核基因相关线粒体复合物缺乏症携带者筛查专家共识

Expert consensus on carrier screening for nuclear gene⁃related mitochondrial complex deficiency

核基因相关线粒体复合物缺乏症是一种以常染色体隐性遗传模式为主的,由核基因突变导致的线粒体呼吸链氧化磷酸化功能障碍为特点的一组遗传性疾病。该疾病患者以言语不利、步态异常为主要临床表现,伴有相应线粒体复合物功能障碍所特有的临床表现,具有一定的临床异质性。该文针对目前核基因相关线粒体复合物缺乏症携带者筛查面临的问题,从筛查方法、适用人群、筛查流程、筛查前后咨询等方面进行了阐述,以规范其应用,更好地为临床服务。

Nuclear gene‑related mitochondrial complex deficiency is a group of inherited diseases characterized by oxidative phosphorylation dysfunction of mitochondrial respiratory chain caused by mutations in nuclear genes,and it is mainly inherited in an autosomal recessive pattern.The patients with this disease have the main clinical manifestations of fluency disorder and abnormal gait,accompanied by the specific clinical presentations of corresponding mitochondrial complex dysfunction,showing a certain degree of clinical heterogeneity.This article discusses the issues in screening carriers for nuclear gene‑related mitochondrial complex deficiency and elaborates on this disease from the aspects such as screening methods,target populations,screening processes,and pre‑and post‑screening counseling,in order to standardize its application and provide better service for clinical practice.