肌营养不良蛋白病遗传学诊断专家共识  

Expert Consensus on the genetic diagnosis for Dystrophinopathies

作　　者：中国医师协会医学遗传医师分会 中华医学会儿科学分会罕见病学组 中国罕见病联盟 上海市医学会分子诊断专科分会 河南省医学会遗传医学专科分会 娄桂予 侯巧芳 张玉薇 祁娜 余永国[3] 廖世秀 Medical Genetics Branch of Chinese Medical Association;Rare Diseases Group,Society of Pediatrics,Chinese Medical Association;The China Alliance for Rare Diseases;Molecular Diagnosis Branch of Shanghai Medical Association;Genetic Medicine Branch of Henan Provincial Medical Association;Lou Guiyu;Hou Qiaofang;Zhang Yuwei;Qi Na;Yu Yongguo;Liao Shiriu(不详;Institution of Medical Genetics of Henan Provincial People's Hospital,People's Hospital of Zhengzhou University,Zhengzhou,Henan 450003,China;Department of Pediatric Endocrinology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]不详 [2]河南省人民医院医学遗传研究所(郑州大学人民医院医学遗传研究所),郑州450003 [3]上海交通大学医学院附属新华医院儿童内分泌科,上海200092

出　　处：《中华医学遗传学杂志》2023年第8期909-914,共6页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2019YFC1005103);河南省医学科技攻关计划省部共建重大项目(SBGJ202101003)。

摘　　要：Dystrophin基因的变异可导致X连锁隐性遗传的肌肉疾病,包括进行性杜兴(杜氏)肌营养不良(DMD)、贝克(贝氏)肌营养不良(BMD)和扩张型心肌病,严重威胁人类的生命和健康。遗传学诊断对于这类患者的诊断、治疗、预防具有十分重要的价值。如何合理选择、规范应用各项基因检测技术是临床医师必须掌握的技能。本共识经过同行专家的共同探讨,结合国内外经验和指南,从遗传学诊断角度,针对dystrophin基因检测技术的选择、检测策略、检测流程等方面提供指导性建议。Dystrophinopathies,including Duchenne muscular dystrophy,Becker muscular dystrophy and dilated cardiomyopathy,are X-linked recessive genetic disorders due to variants of the dystrophin gene,which can seriously affect quality of life and health.Genetic diagnosis plays a crucial role in their diagnosis,treatment,and prevention.How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire.By compiling expertise of experts from the relevant areas and guidelines published home and abroad,this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques,testing strategies,and detection process for dystrophinopathies.

关 键 词：肌营养不良蛋白病 DYSTROPHIN基因 杜氏/贝氏肌营养不良 遗传学诊断 专家共识 

分 类 号：R746.2[医药卫生—神经病学与精神病学]