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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 21, 2023; 29(31): 4809-4814
Published online Aug 21, 2023. doi: 10.3748/wjg.v29.i31.4809
Published online Aug 21, 2023. doi: 10.3748/wjg.v29.i31.4809
Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
Cheng-Cheng He, Shan-Ping Wang, Pei-Rong Zhou, Zhi-Jun Li, Na Li, Ming-Song Li, Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China
Author contributions: He CC wrote the manuscript and designed the study; Wang SP performed the experiments; Li ZJ and Li N helped to collect the data; Zhou PR and Li MS supervised the study; All authors have read and approved the final manuscript.
Supported by This work was supported by the Guangdong Basic and Applied Basic Research Fund , No. 2022A1515111193 ; and the Guangzhou Science and technology plan project , No. 2023A04J0581 .
Informed consent statement: Collection and usage of clinical specimens were approved by The Third Affiliated Hospital of Guangzhou Medical University’s Ethical Committee Board (Approval number: EN-2022010). All patients were informed of sample collection and usage.
Conflict-of-interest statement: All the authors declare that they have no competing financial or other interests 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: Ming-Song Li, MD, PhD, Chief Physician, Professor, Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, No. 63 Duobao Road, Liwan District, Guangzhou 510150, Guangdong Province, China. 2020683127@gzhmu.edu.cn
Received: June 5, 2023
Peer-review started: June 5, 2023
First decision: July 7, 2023
Revised: July 18, 2023
Accepted: July 31, 2023
Article in press: July 31, 2023
Published online: August 21, 2023
Peer-review started: June 5, 2023
First decision: July 7, 2023
Revised: July 18, 2023
Accepted: July 31, 2023
Article in press: July 31, 2023
Published online: August 21, 2023
Core Tip
Core Tip: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking. Here, we present the first case of SRUS in a mother-son relationship. Gene sequencing and experiment preliminarily indicate that SRUS may serve as a genetic susceptibility disease in which CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS. This case may offer some new insights into the virulence genes and genetic background of SRUS.