Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study
Yu Sun1,2,*; Jing Peng3,4,*; Desheng Liang5; Xiantao Ye1,2; Na Xu1,2; Linlin Chen1,2; Dan Yan1,2; Huiwen Zhang1,2; Bing Xiao1,2; Wenjuan Qiu1,2; Yiping Shen6; Nan Pang3,4; Yingdi Liu5; Chen Liang7; Zailong Qin6; Jingsi Luo6; Fei Chen6; Jingmin Wang8; Zhixin Zhang9; Haiyan Wei10; Juan Du11; Huifang Yan8; Ruoyu Duan8; Junyu Wang8; Yu Zhang8; Shixiu Liao12; Kun Sun13,#; Lingqian Wu5,#; Yongguo Yu1,2,#
1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, 200092, Shanghai, China.
2Shanghai Institute for Pediatric Research, 200092, Shanghai, China.
3 Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, China.
4 Hunan Intellectual and Developmental Disabilities Research Center, 410008, Changsha, China
5Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, China
6 Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 530003, Nanning, China.
7 Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, 529000, Jiangmen, China.
8 Department of Pediatrics, Peking University First Hospital, 10034, Beijing, China.
9 International Medical Services, China-Japan Friendship Hospital, 100029, Beijing, China.
10 Department of Endocrinologic and Inherited Metabolic, Childen’s Hospital affiliated to Zhengzhou University, 450018, Zhengzhou, China.
11Reproductive and Genetic Hospital of CITIC-Xiangya, 410078, Changsha, China.
12 Provincial People’s Hospital, Medical Genetics Institute of Henan Province, 450003, Zhengzhou, Henan Province, China.
13 Center for Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, 200092, Shanghai, China.
Yu Sun and Jing Peng should be considered joint first author. Kun Sun, Lingqian Wu and Yongguo Yu should be considered joint senior author.
Correspondence: Kun Sun, MD, PhD, Center for Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, 200092, Shanghai, China (Tel: 86-21-25078480; Email: sunkun@xinhuamed.com.cn); Lingqian Wu, MD, PhD, Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, China (Tel: 86-731-84805252 ; Email: wulingqiang@sklmg.edu.cn); Yongguo Yu, MD, PhD, Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, 200092, Shanghai, China (Tel: 86-21-25076453; Email: yuyongguo@shsmu.edu.cn)