Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2022; 10(15): 5018-5024
Published online May 26, 2022. doi: 10.12998/wjcc.v10.i15.5018
Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report
Su-Li Zhang, Shuang-Zhu Lin, Yan-Qiu Zhou, Wan-Qi Wang, Jia-Yi Li, Cui Wang, Qi-Ming Pang
Su-Li Zhang, Cui Wang, Qi-Ming Pang, Department of Neuroscience, Hainan Women and Children's Medical Center, Haikou 570100, Hainan Province, China
Shuang-Zhu Lin, Yan-Qiu Zhou, Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Wan-Qi Wang, Jia-Yi Li, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
Author contributions: Zhang SL and Lin SZ collected and analyzed all clinical data and wrote the manuscript; Zhou YQ and Wang C participated in the collation of the literature and the chart research; Pang QM was involved in the genetic diagnosis and treatment of the patient; Lin SZ, Zhou YQ, Wang WQ, and Li JY 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 Hainan Province Clinical Medical Center, No. (2021)75 and No. (2021)276.
Informed consent statement: Informed consent was obtained from the patient’s parents for the publication of this article.
Conflict-of-interest statement: All the authors of this article have no conflict of interest to disclose.
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: Qi-Ming Pang, MD, Associate Chief Physician, Department of Neuroscience, Hainan Women and Children's Medical Center, No. 15 Longkun Nan Lu, Haikou 570100, Hainan Province, China. 69704936@qq.com
Received: November 19, 2021
Peer-review started: November 19, 2021
First decision: December 27, 2021
Revised: January 10, 2022
Accepted: March 26, 2022
Article in press: March 26, 2022
Published online: May 26, 2022
Processing time: 186 Days and 14.3 Hours
Core Tip

Core Tip: The main clinical manifestations of Hutchinson-Gilford progeria syndrome (HGPS) in this 2-year-old boy were abnormal appearance, and growth and development lag behind children of the same age. DNA sequencing showed that there was a synonymous heterozygous mutation in the LMNA gene. This study provides a molecular basis for the etiological diagnosis of HGPS and genetic counseling for the family.