Huang TT, Xu HF, Wang SY, Lin WX, Tung YH, Khan KU, Zhang HH, Guo H, Zheng G, Zhang G. Identification of 1q21.1 microduplication in a family: A case report. World J Clin Cases 2023; 11(4): 874-882 [PMID: 36818619 DOI: 10.12998/wjcc.v11.i4.874]
Corresponding Author of This Article
Gang Zhang, MD, PhD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210000, Jiangsu Province, China. zhanggangnjmu@126.com
Research Domain of This Article
Neurosciences
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/
World J Clin Cases. Feb 6, 2023; 11(4): 874-882 Published online Feb 6, 2023. doi: 10.12998/wjcc.v11.i4.874
Identification of 1q21.1 microduplication in a family: A case report
Ting-Ting Huang, Hai-Feng Xu, Shang-Yu Wang, Wen-Xin Lin, Yie-Hen Tung, Kaleem Ullah Khan, Hui-Hui Zhang, Hu Guo, Guo Zheng, Gang Zhang
Ting-Ting Huang, Hai-Feng Xu, Shang-Yu Wang, Wen-Xin Lin, Yie-Hen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Gang Zhang, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Hui-Hui Zhang, Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Hui-Hui Zhang, Nanjing Xiaozhuang University Experimental Primary School, Nanjing 210000, Jiangsu Province, China
Author contributions: Zhang G designed and performed the study; Huang TT, Xu HF, and Wang SY wrote the draft manuscript; Lin WX, Tung YH and Zhang HH collected the data; Khan KU, Guo H and Zheng G carried out language revision; All authors approved the submission of the final manuscript.
Informed consent statement: Written informed consent for publication was obtained from the parents.
Conflict-of-interest statement: All the authors have no financial relationship with any commercial entity with a potential interest in the subject of this manuscript.
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: Gang Zhang, MD, PhD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210000, Jiangsu Province, China. zhanggangnjmu@126.com
Received: August 17, 2022 Peer-review started: August 17, 2022 First decision: November 11, 2022 Revised: December 21, 2022 Accepted: January 12, 2023 Article in press: January 12, 2023 Published online: February 6, 2023
Abstract
BACKGROUND
Copy number variation (CNV) has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research. 1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders, autism spectrum disorders, congenital malformations, and congenital heart defects with genetic heterogeneity.
CASE SUMMARY
We reported a pediatric patient with 1q21.1 microduplication syndrome, and carried out a literature review to determine the correlation between 1q21.1 microduplication and its phenotypes. We summarized the patient’s medical history and clinical symptoms, and extracted genomic DNA from the patient, her parents, elder brother, and sister. The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period. Whole exon sequencing and whole genome low-depth sequencing (CNV-seq) were then performed. Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region, which was located in the 1q21.1 region. Family analysis showed that the pathogenetic duplication fragment, which was also detected in her elder brother’s DNA originated from the mother.
CONCLUSION
Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is of great significance for genetic counseling and early intervention.
Core Tip: We reported an 8-mo-old girl with 1q21.1 microduplication syndrome, and review the literature to determine the correlation between 1q21.1 microduplication and its phenotypes. Whole exon sequencing and whole genome low-depth sequencing (Copy number variation -seq) were performed on the patient and her family members. This case shows that whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is important for genetic counseling and early intervention in the patients.
