| ISSN |
2307-8960 (online) |
| 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: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Hematology |
| Manuscript Type |
Case Report |
| Article Title |
Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
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 and Rui-Juan Zhang |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Shanxi Key Research and Development Project |
201903D321133 |
| Shanxi Bethune Hospital’s Talent Introduction Scientific Research Start-up Fund Project |
2021RC038, 2021RC017 |
|
| 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 |
| Key Words |
Gaucher disease; Parkinson’s disease; Lipid metabolism; Molecular mechanism; Case report |
| 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. |
| Publish Date |
2022-12-26 18:23 |
| Citation |
Wen XL, Wang YZ, Zhang XL, Tu JQ, Zhang ZJ, Liu XX, Lu HY, Hao GP, Wang XH, Yang LH, Zhang RJ. Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report. World J Clin Cases 2022; 10(36): 13426-13434 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i36/13426.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i36.13426 |
