Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
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 by Key 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
Core Tip

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.