Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2021; 9(33): 10257-10264
Published online Nov 26, 2021. doi: 10.12998/wjcc.v9.i33.10257
Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
Hong-Xian Guo, Bao-Wei Li, Mei Hu, Shao-Yan Si, Kai Feng
Hong-Xian Guo, Department of Paediatrics, Strategic Support Force Medical Center of PLA, Beijing 100101, China
Bao-Wei Li, Department of ENT, Strategic Support Force Medical Center of PLA, Beijing 100101, China
Mei Hu, ICU, Strategic Support Force Medical Center of PLA, Beijing 100101, China
Shao-Yan Si, Kai Feng, Special Medical Center, Strategic Support Force Medical Center of PLA, Beijing 100101, China
Author contributions: Guo HX was the patient’s pediatrician, reviewed the literature and drafted the manuscript; Li BW and Hu M reviewed the literature and contributed to manuscript drafting; Si SY performed the gene analyses and interpretation and contributed to manuscript drafting; Feng K analyzed and interpreted the gene finding, and was responsible for the revision of the manuscript for important intellectual content; and All authors approved the final version of this manuscript for submission.
Informed consent statement: Informed written consent was obtained from the patient 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: Kai Feng, MD, Director, Special Medical Center, Strategic Support Force Medical Center of PLA, No. 9 North Anxiang Road, Chaoyang District, Beijing 100101, China. fkjiafp@126.com
Received: April 20, 2021
Peer-review started: April 20, 2021
First decision: July 15, 2021
Revised: August 9, 2021
Accepted: September 19, 2021
Article in press: September 19, 2021
Published online: November 26, 2021
Processing time: 216 Days and 7.1 Hours
Core Tip

Core Tip: The case report describes a de novo KDM6A mutation in a Chinese patient with Kabuki syndrome (KS). This novel KDM6A frameshift mutation broadens the KS mutation spectrum and knowledge of its clinical manifestations.