Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2021; 9(26): 7876-7885
Published online Sep 16, 2021. doi: 10.12998/wjcc.v9.i26.7876
Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report
Xia Yang, Zi-Li Lv, Qing Tang, Xiu-Qi Chen, Li Huang, Mei-Xiong Yang, Lian-Cheng Lan, Qing-Wen Shan
Xia Yang, Qing Tang, Xiu-Qi Chen, Li Huang, Mei-Xiong Yang, Lian-Cheng Lan, Qing-Wen Shan, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Zi-Li Lv, Department of Pathology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Author contributions: Yang X, Lan LC, and Yang MX performed the literature review and article drafting; Tang Q, Huang L, and Chen XQ collected the samples from the patient and compiled the clinical information; Lv ZL performed the pathological analysis; Shan QW performed project design and article revision and review; all authors reviewed and approved the final manuscript.
Informed consent statement: Informed consent was obtained from the parents of the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no interest conflicts to report.
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: Qing-Wen Shan, MD, PhD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. shanqw333@163.com
Received: April 12, 2021
Peer-review started: April 12, 2021
First decision: June 23, 2021
Revised: July 4, 2021
Accepted: July 14, 2021
Article in press: July 14, 2021
Published online: September 16, 2021
Processing time: 151 Days and 0.2 Hours
Core Tip

Core Tip: This article reports on an 8-mo-old male infant with hemizygous pathogenic mutation c.1036G>A (p.E346K) in the ATP6AP1 gene. ATP6AP1-congenital disorders of glycosylation (ATP6AP1-CDG) is a recently identified disease and rarely occurs in Asia. If a patient shows liver, neurological, and immune deficiencies, or other multisystem abnormalities, early genetic screening is advised for a definitive diagnosis. This study expands the disease spectrum of ATP6AP1-CDG and improves its understanding.