Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 26, 2023; 11(27): 6505-6514
Published online Sep 26, 2023. doi: 10.12998/wjcc.v11.i27.6505
Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-alwi, Hong Ji
Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-alwi, Hong Ji, Department of Pediatrics, The First Part of The First Affiliated Hospital of Dalian Medical University, Dalian 116011, Liaoning Province, China
Author contributions: Russel T and Bao XY collected information and data from the patient; Xing XH, Nour A, and Russel T drafted and revised the manuscript; Ji H conceived the idea and attended to the patient.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this case report.
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: Hong Ji, MD, PhD, Doctor, Professor, Pediatrics, The First Part of The First Affiliated Hospital of Dalian Medical University, No. 222 Zhongshan Road, Xigang District, Dalian 116011, Liaoning Province, China. jihongsdq@126.com
Received: May 7, 2023
Peer-review started: May 7, 2023
First decision: July 3, 2023
Revised: August 8, 2023
Accepted: August 29, 2023
Article in press: August 29, 2023
Published online: September 26, 2023
Processing time: 136 Days and 3.1 Hours
Core Tip

Core Tip: Methyl-CpG-binding protein 2 (MECP2) duplication syndrome is a rare X-linked neurodevelopmental disorder. There is a paucity of data describing typical MECP2 syndrome cases in the literature. We describe the case of a Chinese boy with no history of seizure, recurrent infections, or bowel impairment from birth, who inherited duplication of the Xq28 region, including MECP2, from his mother who is a carrier, and discussed the clinical and genetic characteristics of this family. A lack of microduplication of genes in the Xq28 region may explain the absence of typical symptoms, which adds to previous reports of a rare genetic mutation in China.