| ISSN |
2219-2808 (online) |
| 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/ |
| Copyright |
The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Basic Study |
| Article Title |
Monogenic defects in Russian children with autism spectrum disorders
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
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 and Evgeny N Imyanitov |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Russian Sciense Foundation |
24-45-00067 |
|
| Corresponding Author |
Evgeny N Suspitsin, Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Litovskaya St., 2, Saint-Petersburg 194100, Russia. evgeny.suspitsin@gmail.com |
| Key Words |
Autism; Autistic spectrum disorders; Mutation; High-throughput sequencing; Intellectual disability; Neurodevelopmental disorders; Developmental delay; Mental retardation; PCDH19; Chromosomal microarray |
| 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. |
| Publish Date |
2025-10-31 15:02 |
| Citation |
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 |
| URL |
https://www.wjgnet.com/2219-2808/full/v14/i4/108733.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v14.i4.108733 |
