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
Abstract
BACKGROUND

Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China.

CASE SUMMARY

This study reports a de novo KDM6A mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19).

CONCLUSION

We present a Chinese KS patient with a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.

Keywords: Kabuki syndrome; KDM6A; Gene mutation; Chinese; Case report

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.