Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report

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...

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Autores principales: He, Cheng-Cheng, Wang, Shan-Ping, Zhou, Pei-Rong, Li, Zhi-Jun, Li, Na, Li, Ming-Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473918/
https://www.ncbi.nlm.nih.gov/pubmed/37664155
http://dx.doi.org/10.3748/wjg.v29.i31.4809
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author He, Cheng-Cheng
Wang, Shan-Ping
Zhou, Pei-Rong
Li, Zhi-Jun
Li, Na
Li, Ming-Song
author_facet He, Cheng-Cheng
Wang, Shan-Ping
Zhou, Pei-Rong
Li, Zhi-Jun
Li, Na
Li, Ming-Song
author_sort He, Cheng-Cheng
collection PubMed
description 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.
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spelling pubmed-104739182023-09-03 Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report He, Cheng-Cheng Wang, Shan-Ping Zhou, Pei-Rong Li, Zhi-Jun Li, Na Li, Ming-Song World J Gastroenterol Case Report 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. Baishideng Publishing Group Inc 2023-08-21 2023-08-21 /pmc/articles/PMC10473918/ /pubmed/37664155 http://dx.doi.org/10.3748/wjg.v29.i31.4809 Text en ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/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.
spellingShingle Case Report
He, Cheng-Cheng
Wang, Shan-Ping
Zhou, Pei-Rong
Li, Zhi-Jun
Li, Na
Li, Ming-Song
Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title_full Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title_fullStr Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title_full_unstemmed Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title_short Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report
title_sort inherited chek2 p.h371y mutation in solitary rectal ulcer syndrome among familial patients: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473918/
https://www.ncbi.nlm.nih.gov/pubmed/37664155
http://dx.doi.org/10.3748/wjg.v29.i31.4809
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