ISSN: 1001-0602
EISSN: 1748-7838
2012 impact factor 10.526*
(Thomson Reuters, 2013)
Free Sample Issue
 

VOLUME 28 ISSUE 10(10,2018): 1039-1041

 

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

 

Zhongzhong Chen 1,2, Yunping Lei 3,4, Yufang Zheng 1,2,5,Vanessa Aguiar-Pulido 6, M. Elizabeth Ross 6, Rui Peng 1, Li Jin 1,2,Ting Zhang 7, Richard H. Finnell 3,4 and Hongyan Wang 1,2,8,9

 

1Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China; 2Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai 200032, China; 3Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA; 4Collaborative Innovation Center for Genetics & Development, School of Life Sciences, Fudan University, Shanghai 200438, China; 5Institute of Developmental Biology & Molecular Medicine, Fudan University, Shanghai 200433, China; 6Center for Neurogenetics, Weill Cornell Medicine, New York, NY 10021, USA; 7Capital Institute of Pediatrics, Beijing 100020, China; 8Children’s Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China and 9Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China

Correspondence:These authors contributed equally: Zhongzhong Chen, Yunping Lei,
and Yufang Zheng
Correspondence: Ting Zhang (zhangtingcv@126.com) or
Richard H. Finnell (Richard.Finnell@bcm.edu) or
Hongyan Wang (wanghy@fudan.edu.cn)        

 

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.5 Recently, an omnigenic model of inheritance was proposed for complex traits, suggesting that the associated signals tend to spread across almost the entire genome.6 In light of this new perspective on the genomic architecture of complex traits, we re-evaluated whole-genome sequencing (WGS) data from three different NTD cohorts (Han Chinese, Caucasian USA, and Middle Eastern/Qatar).

 

https://doi.org/10.1038/s41422-018-0061-3

 
 
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