Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2020; 8(24): 6465-6472
Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6465
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
Jin-Rong Li, Zhuo Huang, You Lu, Qiao-Yun Ji, Ming-Yan Jiang, Fan Yang
Jin-Rong Li, Zhuo Huang, You Lu, Qiao-Yun Ji, Ming-Yan Jiang, Fan Yang, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Jin-Rong Li, Ming-Yan Jiang, Fan Yang, Department of Ministry of Education, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Chengdu 610041, Sichuan Province, China
Author contributions: Yang F and Jiang MY conceived the study and its design; Huang Z performed literature research; Li JR and Lu Y were involved in the clinical studies; Ji QY performed data and statistical analyses; Li JR was involved in manuscript preparation and manuscript review; Jiang MY and Huang Z edited the manuscript; all authors have read and approved this article.
Supported by the Health and Family Planning Commission of Sichuan Province, No. 150106.
Informed consent statement: Informed written consent was obtained from the patient’ parent for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ming-Yan Jiang, MD, Physiotherapist, Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 Section 3, South Renmin Road, Chengdu 610041, Sichuan Province, China. jiangmy0904@qq.com
Received: August 28, 2020
Peer-review started: August 28, 2020
First decision: September 24, 2020
Revised: October 8, 2020
Accepted: October 26, 2020
Article in press: October 26, 2020
Published online: December 26, 2020
Processing time: 113 Days and 13.5 Hours
Core Tip

Core Tip: This report introduces a Chinese boy referred to our hospital mainly due to progressive postnatal microcephaly and intellectual disability with severe speech impairment. A novel pathogenic mutation (c.1795G>T; p.E599*) was detected in the patient by trio-based whole exome sequencing. The proband’s clinical features largely conformed to reported Bainbridge-Ropers syndrome patients in the literature. These clinical and genetic findings improved our understanding of Bainbridge-Ropers syndrome and also aided in the definitive diagnosis and genetic counseling for this family.