Suspitsin EN, Malysheva KS, Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV, Korzun PR, Binnatova JO, Gorgul YA, Syomina MV, Imyanitov EN. Monogenic defects in Russian children with autism spectrum disorders. World J Clin Pediatr 2025; 14(4): 108733 [DOI: 10.5409/wjcp.v14.i4.108733]
Corresponding Author of This Article
Evgeny Suspitsin, Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Litovskaya St. 2, Saint-Petersburg 194100, Russia. evgeny.suspitsin@gmail.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Basic Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Pediatr. Dec 9, 2025; 14(4): 108733 Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108733
Monogenic defects in Russian children with autism spectrum disorders
Evgeny N Suspitsin, Kristina S Malysheva, Sergey A Laptiev, Olga S Sharonova, Anastasiya S Abuzova, Anastasiya A Kuznitsyna, Tatyana V Melashenko, Oksana V Efremova, Polina R Korzun, Jeyla O Binnatova, Yuliy A Gorgul, Maria V Syomina, Evgeny N Imyanitov
Evgeny N Suspitsin, Kristina S Malysheva, Sergey A Laptiev, Olga S Sharonova, Anastasiya S Abuzova, Anastasiya A Kuznitsyna, Polina R Korzun, Jeyla O Binnatova, Evgeny N Imyanitov, Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg 194100, Russia
Evgeny N Suspitsin, Yuliy A Gorgul, Maria V Syomina, Evgeny N Imyanitov, Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Saint-Petersburg 197758, Russia
Tatyana V Melashenko, Department of Psychoneurology, Children’s City Hospital No. 22, Saint-Petersburg 196657, Russia
Oksana V Efremova, Department of Consultative Outpatient, Leningrad Regional Clinical Hospital, Saint-Petersburg 194291, Russia
Author contributions: Suspitsin EN and Malysheva KS designed and coordinated the study; Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV acquired and analyzed data; Korzun PR, Binnatova JO, Gorgul YA performed the experiments; Syomina MV contributed to bioinformatics pipelines; Suspitsin EN contributed to data curation; Suspitsin EN and Imyanitov EN wrote the manuscript; all authors approved the final version of the article.
Supported by the Russian Science Foundation Grant, No. 24-45-00067.
Institutional review board statement: The protocol of the study was approved by the local Ethical Committee of Saint Petersburg State Pediatric Medical University (No. 48/03 from December 19, 2024).
Conflict-of-interest statement: The authors declare no conflicts of interest.
Data sharing statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author upon reasonable request.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Evgeny Suspitsin, Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Litovskaya St. 2, Saint-Petersburg 194100, Russia. evgeny.suspitsin@gmail.com
Received: April 23, 2025 Revised: May 12, 2025 Accepted: August 5, 2025 Published online: December 9, 2025 Processing time: 191 Days and 19.7 Hours
Core Tip
Core Tip: While autism is a clinical diagnosis, genetic studies provide important clues on autism spectrum disorders (ASD) pathogenesis. From a practical point of view, DNA testing offers an opportunity to obtain valuable information on genetic risks and, sometimes, on the most effective treatment. The number of ASD-associated candidate genes exceeds 1000, yet often the causal role of a particular gene or allelic variant stays unproven. We utilized clinical exome sequencing for the DNA testing of ASD patients. The results obtained suggest that in children with ASD and developmental delay/mental retardation, the diagnostic yield of singleton clinical exome sequencing is comparable to that of singleton whole exome sequencing. Also, we assume that rare PCDH19 variants may play a role in causing autistic features in males.
