A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABAA receptor.

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Title: A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABAA receptor.
Authors: Li XQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Li XY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Chen WF; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xu ZY; Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, Jiangsu, China., Liu ZQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Wang Y; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Zhang JY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Gu YY; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China., Yao L; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Tan YF; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Chen XJ; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China., Deng B; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China., Wang KH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xu JQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., He MJ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Geng ZH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Fan KY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Zhang ZC; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Wang L; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xiang AY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Pan HT; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Hu ZB; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China., Xie YL; Institutes of Brain Science, Fudan University, Shanghai, China. yunli.xie@fudan.edu.cn., Wang C; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn., Zhou PH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn., Li QL; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. li.quanlin@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. li.quanlin@zs-hospital.sh.cn.
Source: Nature communications [Nat Commun] 2026 May 25. Date of Electronic Publication: 2026 May 25.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-026-73358-9