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Publication Name World Journal of Gastrointestinal Surgery
Manuscript ID 107235
Country China
Category Genetics & Heredity
Manuscript Type Case Report
Article Title Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report
Manuscript Source Unsolicited Manuscript
All Author List Shan Jiang, Ya-Xuan Zhou, Xiao-Hong Sun, Pei-Pei Chen, Hao Tang, Yang Chen, Ya-Ping Liu, Yi-Xuan Li and Lin Kang
Funding Agency and Grant Number
Funding Agency Grant Number
National High Level Hospital Clinical Research Funding 2022-PUMCH-B-129
Corresponding Author Lin Kang, Chief Physician, MD, PhD, Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No 1 Shuaifuyuan, Dongcheng District, Beijing 100730, China. kangl@pumch.cn
Key Words Rare disease; Chronic intestinal pseudo-obstruction; Gastrointestinal motility disorder; MYH11; Case report
Core Tip Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder, characterized by severe impairments of gastrointestinal motility. This case involves an elderly male with an insidious onset during adolescence and a disease course spanning several decades, who experienced two episodes of intestinal obstruction requiring ileocecal resection. The histopathological findings confirmed the diagnosis of CIPO. Whole-exome sequencing identified a rare heterozygous MYH11 mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming the diagnosis of hereditary myopathic CIPO. This case provides evidence to support the role of MYH11 variants in the CIPO phenotype.
Citation Jiang S, Zhou YX, Sun XH, Chen PP, Tang H, Chen Y, Liu YP, Li YX, Kang L. Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report. World J Gastrointest Surg 2025; In press
Received
2025-03-19 13:04
Peer-Review Started
2025-03-19 13:04
To Make the First Decision
Return for Revision
2025-03-30 01:07
Revised
2025-04-12 04:42
Second Decision
2025-05-09 02:46
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-05-09 08:29
Articles in Press
2025-05-09 08:29
Publication Fee Transferred
2025-04-14 08:25
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1948-9366 (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: https://creativecommons.org/Licenses/by-nc/4.0/
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