Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2022; 10(21): 7517-7522
Published online Jul 26, 2022. doi: 10.12998/wjcc.v10.i21.7517
Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report
Shuang-Zhu Lin, Hong-Yan Xie, Yan-Lai Qu, Wen Gao, Wan-Qi Wang, Jia-Yi Li, Xiao-Chun Feng, Chun-Quan Jin
Shuang-Zhu Lin, Hong-Yan Xie, Yan-Lai Qu, Xiao-Chun Feng, Chun-Quan Jin, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Wen Gao, Wan-Qi Wang, Jia-Yi Li, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
Author contributions: Lin SZ and Xie HY collected and analyzed all clinical data and wrote the manuscript; Qu YL and Gao W participated in the collation of the literature and the chart research; Jin CQ was involved in the genetic diagnosis and treatment of the patients; Lin SZ, Wang WQ, Li JY and Feng XC substantially participated in drafting and revising the important intellectual content of the manuscript; All authors involved have read and approved the final manuscript.
Supported by National Administration of Traditional Chinese Medicine, No. 2019XZZX-EK002.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the researchers said there was 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun-Quan Jin, MD, Professor, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130021, Jilin Province, China. jinchunquan@126.com
Received: December 21, 2021
Peer-review started: December 21, 2021
First decision: February 8, 2022
Revised: February 21, 2022
Accepted: June 3, 2022
Article in press: June 3, 2022
Published online: July 26, 2022
Processing time: 201 Days and 19 Hours
Core Tip

Core Tip: We report a 6-mo-old girl with Xia–Gibbs syndrome (XGS). The main clinical manifestations were global developmental delay, hypotonia, and other mild dysmorphic features. DNA sequencing showed that there was a novel frameshift mutation of c.1155dupG (p.Arg386Alafs*3) in the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene. This study extends the mutation spectrum of the AHDC1 gene, and provides a molecular basis for the etiological diagnosis of XGS and genetic consultation for the family.