Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2022; 10(36): 13426-13434
Published online Dec 26, 2022. doi: 10.12998/wjcc.v10.i36.13426
Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report
Xiao-Ling Wen, Yao-Zi Wang, Xia-Lin Zhang, Jia-Qiang Tu, Zhi-Juan Zhang, Xia-Xia Liu, Hai-Yan Lu, Guo-Ping Hao, Xiao-Huan Wang, Lin-Hua Yang, Rui-Juan Zhang
Xiao-Ling Wen, Jia-Qiang Tu, Department of Hematology, The First People’s Hospital of Yibin, Yibin 644000, Sichuan Province, China
Xiao-Ling Wen, Yao-Zi Wang, Zhi-Juan Zhang, Xia-Xia Liu, Lin-Hua Yang, Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China
Xia-Lin Zhang, Rui-Juan Zhang, Department of Hematology, The Third Hospital of Shanxi Medical University, The Shanxi Bethune Hospital, The Shanxi Academy of Medical Sciences, The Tongji Shanxi Hospital, The Shanxi Medical University, Taiyuan 030032, Shanxi Province, China
Hai-Yan Lu, Guo-Ping Hao, Xiao-Huan Wang, Department of Hematology, The Children’s Hospital of Shanxi, Taiyuan 030006, Shanxi Province, China
Author contributions: Zhang RJ, Wen XL and Zhang XL designed the study. Zhang XL and Wen XL performed the experiments. Wen XL and Wang YZ drafted the manuscript; and all authors have contributed to the revision of the manuscript.
Supported by Shanxi Key Research and Development Project, No. 201903D321133; Shanxi Bethune Hospital’s Talent Introduction Scientific Research Start-up Fund Project, No. 2021RC038 and 2021RC017.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images. This study was approved by the Ethics Committee of the Third Hospital of the Shanxi Medical University (approval no. SBQKL-2021-052) and in accordance with the principles of the Declaration of Helsinki.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors 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: Rui-Juan Zhang, MD, Chief Physician, Department of Hematology, The Third Hospital of Shanxi Medical University, The Shanxi Bethune Hospital, The Shanxi Academy of Medical Sciences, The Tongji Shanxi Hospital, The Shanxi Medical University, No. 99 Longcheng Street, Xiaodian District, Taiyuan 030032, Shanxi Province, China. 13593169668@163.com
Received: September 18, 2022
Peer-review started: September 18, 2022
First decision: October 12, 2022
Revised: October 20, 2022
Accepted: November 30, 2022
Article in press: November 30, 2022
Published online: December 26, 2022
Processing time: 99 Days and 5.4 Hours
Core Tip

Core Tip: We report a rare adult-onset type 1 GD patient in a 46-year-old female with clinical manifestations of giant spleen, thrombocytopenia, and bone pain, diagnosed by enzymatic and genetic testing. Using enzymology and whole exome sequencing, it is indicated that heterozygous missense mutations in exon 10 c.1448T>C (p.L483P) and exon 7 c.928A>G (p.S310G) of GBA1. The latter was first reported in GD. Structural modeling showed that p.S310G and p.L483P are far away from the glucocerebrosidase active site. The p.S310G mutation in domain 1 could cause decreased stability between the α2 and α3 helices of GBA1. The p.L483P mutation in domain 2 could reduce the van der Waals force of the side chain and disrupt the C-terminal-sheet. The patient was treated with imiglucerase replacement therapy, and her condition was basically stable.