Threshold for neural tube defect risk by accumulated singleton loss-of-function variants  

作　　者：Zhongzhong Chen Yunping Lei Yufang Zheng Vanessa Aguiar-Pulido M. Elizabeth Ross Rui Peng Li Jin Ting Zhang Richard H. Finnell Hongyan Wang 

机构地区：[1]Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China [2]Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai 200032, China [3]Departments of Molecular and Ceflular Biology end Medicine, Boylor College of Medicine, Houston, TX 77030, USA [4]Collaborative Innovation Center for Genetics & Development, School of Life Sciences, Fudon University, Shanghai 200438, China [5]Institute of Developmental Biology & Molecular Medicine, Fudan University, Shanghai 200433, China [6]Center for Neurogenetics, Weill Comell Medicine, New York, NY 10021, USA [7]Copital Institute of Pediatrics, Beijing 100020, China [8]Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China [9]lnstitutes of Biomedical Sciences, Fudan University, Shanghai 200032, China

出　　处：《Cell Research》2018年第10期1039-1041,共3页细胞研究（英文版）

基　　金：We thank the families for their participation in this study. Data analysis and computing resource were supported by Center for Big Data Research in Health, Institute of Biophysics, Chinese Academy of Sciences. This proiect was supported by the National Key Basic Research Program of China （2016YFC1000502）, the National Natural Science Foundation of China （81430005, 31521003, 31771669, 81741048）, and the Commission for Science and Technology of Shanghai Municipality （17JC1400902） to H.W. and Y.Z.; and NIH （HD081216, HD083809, and HD067244） to R.H.F. and M.E.R.

摘　　要：Dear Editor, Neural tube defects （NTDs） are a class of major structural malformations affecting the brain and spinal cord. They are among the most common congenital anomalies with a worldwide prevalence of 0.1%.1,2 Elucidating the genetic basis of their complex etiology has eluded our best efforts to date. Although there are more than 400 genes capable of producing an NTD phenotype when mutated in the mouse,3,4 studies of human candidate genes based on mouse NTD genes have not been informative, except for genes in the planar cell polarity pathway.

关 键 词：试管 神经 积累 阈值 风险 变体 世界范围 NTD 

分 类 号：Q42[生物学—神经生物学] S646[生物学—生理学]