Evidence map›Paper›PMID 36588101›Full record

ArticleSignal transduction and targeted therapy2023

SCGN deficiency is a risk factor for autism spectrum disorder.

Zhe Liu, Shuai Tan, Lianyu Zhou, Li Chen, Mingfeng Liu, Wang Wang, Yingying Tang, Qin Yang, Sensen Chi, Peiyan Jiang and 13 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Signal transduction and targeted therapy, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 3 pooled it
10.0field-weighted citation impact, top 1% of its field
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

22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 30 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Article
  7. Maternal Extracellular Vesicles During Pregnancy and Autism Risk in Children.medRxiv : the preprint server for health sciences · 2026
    Article
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  9. Review
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  17. Puerarin attenuates valproate-induced features of ASD in male mice via regulating Slc7a11-dependent ferroptosis.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024
    Article
  18. mSystems · 2024
    Article
  19. Article
  20. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
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

23 authors at 6 institutions in 3 countries.

Zhe Liu *Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Shuai Tan *Department of Immunology, College of Basic Medicine, Chongqing Medical University, 400010, Chongqing, China.
Lianyu Zhou *Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, China.ORCID 0000-0002-6094-683X
Li ChenKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Mingfeng LiuKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Wang WangDepartment of Immunology, College of Basic Medicine, Chongqing Medical University, 400010, Chongqing, China.
Yingying TangKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Qin YangKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Sensen ChiDepartment of Immunology, College of Basic Medicine, Chongqing Medical University, 400010, Chongqing, China.
Peiyan JiangDepartment of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, China.
Yue ZhangBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, 100045, Beijing, China.
Yonghua CuiDepartment of Psychology, Beijing Children's Hospitl, Capital Medical University, 100045, Beijing, China.
Junhong QinKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Xiao HuKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.
Shenglong LiDepartment of Immunology, College of Basic Medicine, Chongqing Medical University, 400010, Chongqing, China.
Qi LiuDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
Lu ChenKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China.ORCID 0000-0002-1083-9729
Song LiDepartment of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, China.
Ezra BursteinDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.ORCID 0000-0003-4341-6367
Wei LiBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, 100045, Beijing, China. liwei@bch.com.cn.
Xiaohu ZhangSichuan University-The Chinese University of Hong Kong Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu, China. zhangxh_alex@163.com.
Xianming MoDepartment of Pediatric Surgery and Laboratory of Stem Cell Biology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China. xmingmo@scu.edu.cn.
Da JiaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, 610041, Chengdu, China. JiaDa@scu.edu.cn.ORCID 0000-0002-2205-1998
Sichuan University · CNArmy Medical University · CNCapital Medical University · CNChongqing Medical University · CNThe University of Texas Southwestern Medical Center · USChinese University of Hong Kong · HK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) affects 1-2% of all children and poses a great social and economic challenge for the globe. As a highly heterogeneous neurodevelopmental disorder, the development of its treatment is extremely challenging. Multiple pathways have been linked to the pathogenesis of ASD, including signaling involved in synaptic function, oxytocinergic activities, immune homeostasis, chromatin modifications, and mitochondrial functions. Here, we identify secretagogin (SCGN), a regulator of synaptic transmission, as a new risk gene for ASD. Two heterozygous loss-of-function mutations in SCGN are presented in ASD probands. Deletion of Scgn in zebrafish or mice leads to autism-like behaviors and impairs brain development. Mechanistically, Scgn deficiency disrupts the oxytocin signaling and abnormally activates inflammation in both animal models. Both ASD probands carrying Scgn mutations also show reduced oxytocin levels. Importantly, we demonstrate that the administration of oxytocin and anti-inflammatory drugs can attenuate ASD-associated defects caused by SCGN deficiency. Altogether, we identify a convergence between a potential autism genetic risk factor SCGN, and the pathological deregulation in oxytocinergic signaling and immune responses, providing potential treatment for ASD patients suffering from SCGN deficiency. Our study also indicates that it is critical to identify and stratify ASD patient populations based on their disease mechanisms, which could greatly enhance therapeutic success.

Indexed as

Autism Spectrum DisorderSecretagoginsAnimalsHumansMiceOxytocinRisk FactorsZebrafishOxytocinSCGN protein, humanSecretagogins

Identifiers

PMID36588101
PMCPMC9806109
OpenAlexW4313382360

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.