Zhang SL, Lin SZ, Zhou YQ, Wang WQ, Li JY, Wang C, Pang QM. Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report. World J Clin Cases 2022; 10(15): 5018-5024 [PMID: 35801028 DOI: 10.12998/wjcc.v10.i15.5018]
Corresponding Author of This Article
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
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/
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 byHainan 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
Abstract
BACKGROUND
This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by LMNA (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.
CASE SUMMARY
In April 2020, a 2-year-old boy with HGPS was found to have an abnormal appearance, and growth and development lagged behind those of children of the same age. The child’s weight did not increase normally, the veins of the head were clearly visible, and he had shallow skin color and sparse yellow hair. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a synonymous heterozygous mutation of C.1824 C>T (P. G608G) in the LMNA gene.
CONCLUSION
Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.
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.
