Skip to main content
SpringerLink
Log in

GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders

  • Letter to the Editor
  • Published:
Neuroscience Bulletin Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Iakoucheva LM, Muotri AR, Sebat J. Getting to the cores of autism. Cell 2019, 178: 1287–1298.

    Article  CAS  Google Scholar 

  2. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R. Association between microdeletion at 16p11.2 and autism. N Engl J Med 2008, 358: 667–675.

    Article  CAS  Google Scholar 

  3. Qiu Z, Yuan B. Towards the framework of understanding autism spectrum disorders. Neurosci Bull 2019, 35: 1110–1112.

    Article  Google Scholar 

  4. Kang JQ, Barnes G. A common susceptibility factor of both autism and epilepsy: functional deficiency of GABAA receptors. J Autism Dev Disord 2013, 43: 68–79.

    Article  Google Scholar 

  5. Yoshimura K, Takeuchi H, Sato O, Hidaka K, Doira N, Terunuma M, et al. Interaction of p130 with, and consequent inhibition of, the catalytic subunit of protein phosphatase 1alpha. J Biol Chem 2001, 276: 17908–17913.

    Article  CAS  Google Scholar 

  6. Kanematsu T, Jang IS, Yamaguchi T, Nagahama H, Yoshimura K, Hidaka K, et al. Role of the PLC-related, catalytically inactive protein p130 in GABAA receptor function. EMBO J 2002, 21: 1004–1011.

    Article  CAS  Google Scholar 

  7. Zhu G, Yoshida S, Migita K, Yamada J, Mori F, Tomiyama M, et al. Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype. J Pharmacol Exp Ther 2012, 340: 520–528.

    Article  CAS  Google Scholar 

  8. Tomiyama K, Song L, Kobayashi M, Kinsella A, Kanematsu T, Hirata M, et al. Orofacial movements in phospholipase C-related catalytically inactive protein-1/2 double knockout mice: Effect of the GABAergic agent diazepam and the D1 dopamine receptor agonist SKF 83959. Synapse 2010, 64: 714–720.

    CAS  PubMed  Google Scholar 

  9. Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, et al. Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. Front Genet 2014, 5: 401.

    Article  Google Scholar 

  10. Murakami A, Matsuda M, Nakasima A, Hirata M. Characterization of the human PRIP-1 gene structure and transcriptional regulation. Gene 2006, 382: 129–139.

    Article  CAS  Google Scholar 

  11. Bakos J, Bacova Z, Grant SG, Castejon AM, Ostatnikova D. Are molecules involved in neuritogenesis and axon guidance related to autism pathogenesis? Neuromolecular Med 2015, 17: 297–304.

    Article  CAS  Google Scholar 

  12. Dang T, Duan WY, Yu B, Tong DL, Cheng C, Zhang YF, et al. Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Mol Psychiatry 2018, 23: 747–758.

    Article  CAS  Google Scholar 

  13. Fanelli F, Marino R, Keller F. Focusing on the interactions between the GABAergic system and neurosteroids in neurodevelopmental disorders. Curr Pharm Des 2013, 19: 6491–6498.

    Article  CAS  Google Scholar 

  14. Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet 2013, 9: e1003823.

    Article  Google Scholar 

  15. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science 2018, 360: 327–331.

    Article  CAS  Google Scholar 

Download references

Acknowledgments

This work was supported by the National Natural Science Foundation of China (31671461, 31301162, 31625013, and 81941405), 973 Program from the Ministry of Science and Technology of China (2013CB945404 and 2010CB529601), Shanghai Brain-Intelligence Project from STCSM (16JC1420501), the Strategic Priority Research Program of the Chinese Academy of Sciences (XDBS01060200 and XDA16010310), and the Shanghai Municipal Science and Technology Major Project (2018SHZDZX05). We are grateful to Dr. Yasong Du of Shanghai Mental Health Center and to Dr. Xiu Xu of Children’s Hospital of Fudan University for the collection of patients’ samples and clinical data. We thank Dr. Yiping Shen and Hong Shao of the Genetics Diagnostic Lab at Boston Children’s Hospital for their assistance.

Author information

Authors and Affiliations

  1. Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China

    Fengyun Zheng, Ting Dang, Yu An, Meng Wu & Bai-Lin Wu

  2. Department of Pathology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China

    Guoyuan Liu, Qiaowen Chen & Bai-Lin Wu

  3. Children’s Hospital of Fudan University, Shanghai, 201102, China

    Ting Dang & Bai-Lin Wu

  4. Boston Children’s Hospital and NGS Collaboration, Harvard Medical School, Boston, 02115, USA

    Xiangxuan Kong & Bai-Lin Wu

  5. Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China

    Zilong Qiu

  6. The College of Life Science, University of the Chinese Academy of Sciences, Beijing, 100049, China

    Zilong Qiu

Authors
  1. Fengyun Zheng
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Guoyuan Liu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ting Dang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Qiaowen Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yu An
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Meng Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Xiangxuan Kong
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Zilong Qiu
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Bai-Lin Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Guoyuan Liu, Zilong Qiu or Bai-Lin Wu.

Ethics declarations

Conflict of interest

The authors declare no conflict of interest in this work.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (PDF 1217 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zheng, F., Liu, G., Dang, T. et al. GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders. Neurosci. Bull. 37, 1240–1245 (2021). https://doi.org/10.1007/s12264-021-00707-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12264-021-00707-7

Search

Navigation