Evidence map›Paper›PMID 42185265›Full record

ArticleNature communications2026

A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABA

Xiao-Qing Li, Xin-Yue Li, Wei-Feng Chen, Zi-Ye Xu, Zu-Qiang Liu, Yun Wang, Ji-Yuan Zhang, Ya-Yun Gu, Lu Yao, Yan-Fang Tan and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

26 authors.

Xiao-Qing Li *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Xin-Yue Li *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Wei-Feng Chen *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Zi-Ye Xu *Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, Jiangsu, China.
Zu-Qiang Liu *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Yun Wang *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Ji-Yuan Zhang *Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Ya-Yun GuDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.
Lu YaoEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Yan-Fang TanEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Xiang-Jun ChenDepartment of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China.ORCID http://orcid.org/0000-0002-8108-9013
Bo DengDepartment of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China.
Ke-Hao WangEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Jia-Qi XuEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Meng-Jiang HeEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Zi-Han GengEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Ke-Yang FanEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Zhao-Chao ZhangEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Li WangEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
An-Yi XiangEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Hai-Ting PanEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Zhi-Bin HuDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.ORCID http://orcid.org/0000-0002-8277-5234
Yun-Li XieInstitutes of Brain Science, Fudan University, Shanghai, China. yunli.xie@fudan.edu.cn.ORCID http://orcid.org/0000-0002-7126-0972
Cheng WangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn.ORCID http://orcid.org/0000-0002-8193-9276
Ping-Hong ZhouEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn.ORCID http://orcid.org/0000-0002-5434-0540
Quan-Lin LiEndoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. li.quanlin@zs-hospital.sh.cn.ORCID http://orcid.org/0000-0002-9108-8786

Funding

National Natural Science Foundation of China (National Science Foundation of China) 82500618National Natural Science Foundation of China (National Science Foundation of China) 82570629
6 · The paper itself

Abstract

Achalasia is a rare esophageal motility disorder of poorly understood etiology. Here, we perform a large trio-based whole-genome sequencing study of achalasia and identify a recessively inherited frameshift variant in FAM129C (p.Ala454fs). A CRISPR/Cas9-engineered Fam129c-mutant mouse model recapitulating key features of achalasia was established, including growth retardation, elevated lower esophageal sphincter (LES) pressure, and selective loss of inhibitory neurons. Multi-omic analyses revealed substantial B cell expansion and activation within the LES, accompanied by enhanced humoral immune responses. Time-course experiments demonstrated that B cell accumulation preceded overt neuronal loss, while B cell depletion via anti-CD20 antibodies or intravenous immunoglobulin treatment partially rescued the phenotypes. Further protein profiling and cell-based assays suggested that the GABA

Indexed as

B-LymphocytesEsophageal AchalasiaFrameshift MutationAnimalsAutoantibodiesCRISPR-Cas SystemsDisease Models, AnimalEsophageal Sphincter, LowerFemaleHumansLymphocyte ActivationMaleMiceMice, Inbred C57BLAutoantibodies

Identifiers

PMID42185265
PMCPMC13385689

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.