Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population

@article{Yang2012ExomeSI,
  title={Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population},
  author={Jun Yang and Shengyu Duan and Rong Zhong and Jieyun Yin and Jia-rui Pu and Juntao Ke and Xuzai Lu and Li Zou and Hongmei Zhang and Zhidong Zhu and Depeng Wang and Hua-sheng Xiao and Anyuan Guo and Jiahong Xia and Xiaoping Miao and Shao-tao Tang and Guo-bin Wang},
  journal={Molecular Neurobiology},
  year={2012},
  volume={47},
  pages={957-966}
}
Hirschsprung’s disease (HSCR) is a complex developmental defect characterized by the absence of enteric ganglia in the gastrointestinal tract. Although the genetic defect of enteric nervous system (ENS) was identified to play a critical role in the progress of HSCR, the systemic genetic dissection of HSCR still needs to be clarified. In this study, we firstly performed exome sequencing of two HSCR patients from a Han Chinese family, including the affected mother and son. After the initial… 
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TLDR
A combined experimental and computational approach was performed to identify direct and gene networks shared among such targets as potential susceptibility factors for HSCR, and genes related to PAX6 either directly (RABGGTB and BRD3) or indirectly (TGFB1, HRAS, and GRB2) were identified as putative genes associated with HSCr.
Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease
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