DMD相关肌营养不良病的遗传咨询专家共识  

Expert consensus on the genetic counseling for Dystrophinopathies

作　　者：单基因病携带者筛查遗传咨询共识专家组 中华医学会医学遗传分会遗传咨询学组 中国医师协会医学遗传医师分会 中国优生科学协会基因诊断与精准医学分会 刘晓亮[2] 赵彦艳[2] 王华 李岭 邬玲仟[5] 卢彦平[6] 常清贤[7] Genetic Counseling Consensus Expert Group for Monogenic Disease Carrier Screening;Genetic Counseling Group,Medical Genetics Branch,Chinese Medical Association;Medical Genetics Branch,Chinese Medical Doctor Association;Genetic Diagnosis and Precision Medicine Branch,Chinese Association of Birth Health and Science;Liu Xiaoliang;Zhao Yanyan;Wang Hua;Li Ling Jesse;Wu Lingqian;Lu Yanping;Chang Qingxian(不详;Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang,Liaoning 110004,China;Hunan Children′s Hospital/Key Laboratory of Birth Defects Research and Prevention of the National Health Commission,Changsha,Hunan 410007,China;State Key Laboratory of Biotherapy,West China Second Hospital,Sichuan University,Chengdu,Sichuan 610041,China;Medical Genetics Research Center,School of Life Sciences,Central South University,Changsha,Hunan 410008,China;General Hospital of the Chinese People′s Liberation Army,Beijing 100853,China;Nanfang Hospital,Southern Medical University,Guangzhou,Guangdong 510515,China)

机构地区：[1]不详 [2]中国医科大学附属盛京医院临床遗传科,沈阳110004 [3]湖南省儿童医院/国家卫健委出生缺陷研究与预防重点实验室,长沙410007 [4]四川大学生物治疗国家重点实验室/华西第二医院,成都610041 [5]中南大学生命科学学院医学遗传学研究中心,长沙410008 [6]中国人民解放军总医院,北京100853 [7]南方医科大学南方医院,广州510515

出　　处：《中华医学遗传学杂志》2024年第6期651-660,共10页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2021YFC1005304)。

摘　　要：由DMD基因变异所致的肌营养不良病的表型分类包括Duchenne型肌营养不良、Becker型肌营养不良以及DMD相关的扩张型心肌病。随着基因检测技术的发展以及基因筛查、尤其是扩展性携带者筛查的普及,越来越多携带DMD基因变异的个体被发现,但目前对于DMD相关肌营养不良病的遗传咨询能力相对不足,也缺乏专业规范。本共识讨论了DMD相关肌营养不良病检测前、后咨询应涵盖的内容要点,旨在为该病的筛查、诊断、治疗及家庭再生育提供专业的遗传咨询意见。Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy,Becker muscular dystrophy,and DMD-associated dilated cardiomyopathy.With the advancement of genetic testing techniques and wider implementation of genetic screening,especially the expanded carrier screening,more and more individuals carrying DMD gene variants have been identified,whereas the genetic counseling capacity is relatively insufficient.Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies.In this consensus,the main points to be covered in the pre-and post-test consultation have been discussed,with an aim to provide genetic counseling guidance for the disease diagnosis,treatment,and family reproduction.

关 键 词：DUCHENNE型肌营养不良 BECKER型肌营养不良 DMD相关扩张型心肌病 遗传咨询 

分 类 号：R746.2[医药卫生—神经病学与精神病学]