Case Report
Copyright ©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
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
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
Abstract
BACKGROUND

Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking.

CASE SUMMARY

Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A.

CONCLUSION

SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.

Keywords: Solitary rectal ulcer syndrome, CHEK2 mutation, CDC25A, Genetic background, Gene sequencing, Case report

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.