Lin SZ, Xie HY, Qu YL, Gao W, Wang WQ, Li JY, Feng XC, Jin CQ. Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report. World J Clin Cases 2022; 10(21): 7517-7522 [PMID: 36157999 DOI: 10.12998/wjcc.v10.i21.7517]
Corresponding Author of This Article
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
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
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 byNational 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
Abstract
BACKGROUND
Xia–Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene (OMIM: 615790), located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, contains five noncoding 5 exons, a single 4.9-kb coding exon, and a noncoding 3 exon.
CASE SUMMARY
In this case report, we diagnosed and treated a 6-mo-old girl with XGS. The primary clinical symptoms included global developmental delay, hypotonia, and mild dysmorphic features. Using high-throughput whole-exosome sequencing to sequence the patient and her parents, and the results showed a novel frameshift mutation of c.1155dupG (p.Arg386Alafs*3) in the AHDC1 gene. The paternal gene was wild type.
CONCLUSION
This report extends the mutation spectrum of the AHDC1 gene to provide the diagnostic basis for genetic counseling in families with XGS.
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.
