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)