Ding L, Wei LW, Li TS, Chen J. Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports. World J Clin Cases 2024; 12(2): 383-391 [PMID: 38313655 DOI: 10.12998/wjcc.v12.i2.383]
Corresponding Author of This Article
Jing Chen, MD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210000, Jiangsu Province, China. dr.chenj@njmu.edu.cn
Research Domain of This Article
Biochemical Research Methods
Article-Type of This Article
Case Report
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 Cases. Jan 16, 2024; 12(2): 383-391 Published online Jan 16, 2024. doi: 10.12998/wjcc.v12.i2.383
Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports
Le Ding, Li-Wan Wei, Tai-Song Li, Jing Chen
Le Ding, Jing Chen, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Li-Wan Wei, Tai-Song Li, Chigene (Beijing) Translational Medical Research Center, Co. Ltd., Beijing 101111, China
Author contributions: Ding L and Wei LW contributed to manuscript writing and editing, and data collection; Li TS contributed to data analysis; Chen J contributed to conceptualization and supervision; and all authors have read and approved the final manuscript.
Supported byKey Health Science and Technology Development Project of Nanjing City, Jiangsu Province, No. ZKX19038.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Jing Chen, MD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210000, Jiangsu Province, China. dr.chenj@njmu.edu.cn
Received: September 19, 2023 Peer-review started: September 19, 2023 First decision: November 20, 2023 Revised: December 1, 2023 Accepted: December 22, 2023 Article in press: December 22, 2023 Published online: January 16, 2024 Processing time: 114 Days and 4.9 Hours
Abstract
BACKGROUND
The SETD1B gene is instrumental in human intelligence and nerve development. Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders, seizures, and language delay.
CASE SUMMARY
This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation, epilepsy, and language delay resulting from a new mutation in the SETD1B gene. Three individuals with these symptoms were selected, and their clinical symptoms, gene test results, and treatment were analyzed. This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach. Among the three patients (two females and one male, aged 8, 4, and 1, respectively), all exhibited psychomotor retardation, attention deficit, and hyperactivity disorder, and two had epilepsy. Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child, although mental development remained somewhat delayed. Whole exome sequencing revealed new mutations in the SETD1B gene for all patients, specifically with c.5473C>T (p.Arg1825trp), c.4120C>T (p.Gln1374*, 593), c.14_15insC (p.His5Hisfs*33).
CONCLUSION
Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay. Although the exact mechanism is not fully understood, interventions such as drug therapy, rehabilitation training, and family support can assist patients in managing their symptoms and enhancing their quality of life. Furthermore, genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance, informs families about genetic disease risks, and contributes to understanding disease pathogenesis and drug research and development.
Core Tip: This study identified three novel mutations in the SETD1B gene: c.5473C>T (p.Arg1825trp), c.4120C>T (p.Gln1374*, 593), c.14_15insC (p.His5Hisfs*33). The findings suggest that these mutations may result in overall developmental delays and intellectual disabilities, thereby broadening the known phenotypic spectrum of the SETD1B gene. Additionally, the study highlighted the potential pathological connection between SETD1B abnormalities and neurodevelopmental retardation associated with epilepsy.
