机构：[1]Department of Pediatrics, Peking University First Hospital, Beijing, China[2]Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China神经科中山大学附属第一医院[3]Department of Neurology, Peking University First Hospital, Beijing, China[4]Department of Pediatrics & Adolescent Medicine, The University of Hong Kong Queen Mary Hospital, Hong Kong, China[5]Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China[6]Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China[7]Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China[8]Department of Pediatrics, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, China[9]Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China[10]Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China[11]Department of Neurology, Qilu Hospital, Shandong University, Jinan, China[12]Department of Neurology, Wuhan Children's Hospital, Wuhan, China[13]Department of Pediatric Neurology, Jiangxi Provincial Children's Hospital, Nanchang, China[14]Department of Neurology, Capital Institute of Pediatrics Children's Hospital, Beijing, China临床科室泌尿外科小儿神经科首都医科大学附属北京儿童医院[15]Department of Pediatrics, Hebei General Hospital, Shijiazhuang, China[16]Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou, China[17]Department of Pediatrics, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China[18]Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China临床科室职能科室临床流行病与循证医学中心泌尿外科小儿神经科首都医科大学附属北京儿童医院[19]Department of Neurology, Wuxi Children's Hospital, Wuxi, China[20]Department of Biostatistics, Peking University First Hospital, Beijing, China[21]Kaiser Permanente SCPMG Cure CMD, Los Angeles, California[22]Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland[23]Beijing Kangso Medical Inspection Co., LTD, Beijing, China
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first-level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2-related CMD (36.4%), followed by COL6-related CMD (23.2%) and alpha-dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.
基金：
This work was supported by grants from The
National Key Research and Development Program of China
(No. 2016YFC0901505); National Natural Science Foundation of
China (No. 81571220); Beijing key laboratory of molecular diagnosis
and study on pediatric genetic diseases (No. Z141107004414036, BZ0317); Beijing Municipal Science and Technology Commission
(No. Z151100003915126).
第一作者机构：[1]Department of Pediatrics, Peking University First Hospital, Beijing, China
通讯作者：
通讯机构：[1]Department of Pediatrics, Peking University First Hospital, Beijing, China[*1]Department of Pediatrics, Peking University First Hospital. No.1 Xi'an Men Street, West District, Beijing 100034, China.
推荐引用方式(GB/T 7714)：
Ge Lin,Zhang Cheng,Wang Zhaoxia,et al.Congenital muscular dystrophies in China[J].CLINICAL GENETICS.2019,96(3):207-215.doi:10.1111/cge.13560.
APA：
Ge, Lin,Zhang, Cheng,Wang, Zhaoxia,Chan, Sophelia H. S.,Zhu, Wenhua...&Xiong, Hui.(2019).Congenital muscular dystrophies in China.CLINICAL GENETICS,96,(3)
MLA：
Ge, Lin,et al."Congenital muscular dystrophies in China".CLINICAL GENETICS 96..3(2019):207-215
