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ID 118058
Author
Kurashige, Takashi National Hospital Organization Kure Medical Center and Chugoku Cancer Center|Hiroshima University
Ueno, Hiroki Hiroshima University
Murao, Tomomi National Hospital Organization Kure Medical Center and Chugoku Cancer Center
Watanabe, Tomoaki National Hospital Organization Kure Medical Center and Chugoku Cancer Center|Hiroshima University
Hinoi, Takao Hiroshima University
Nishino, Ichizo National Center for Neurology and Psychiatry
Torii, Tsuyoshi National Hospital Organization Kure Medical Center and Chugoku Cancer Center
Maruyama, Hirofumi Hiroshima University
Content Type
Journal Article
Description
Facioscapulohumeral dystrophy type1 (FSHD1) patients with a shortened D4Z4 repeat containing the DUX4 gene have a broad spectrum of clinical manifestations. In addition, high expression of DUX4 protein with an aberrant C terminus is frequently identified in B cell acute lymphoblastic leukemia. We investigated clinical manifestations in 31 FSHD1 patients and 30 non-affected individuals. Gastrointestinal cancers (gastric and colorectal cancers) increased after the age of 40 years and were more frequently observed in FSHD1 patients (n = 10) than in non-affected individuals (n = 2, p = 0.0217), though the incidence of cancers occurring in non-gastrointestinal tissues of FSHD1 patients was the same as that of non-affected individuals (p > 0.999). These comorbidities of FSHD1 patients were not associated with D4Z4 repeat number. Our results suggest that gastrointestinal cancers are among the extramuscular manifestations of adult FSHD1 patients, and do not depend on D4Z4 repeat number.
Journal Title
Journal of Human Genetics
ISSN
14345161
1435232X
NCID
AA11206160
Publisher
Springer Nature
Volume
68
Issue
2
Start Page
91
End Page
95
Published Date
2022-11-07
Rights
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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language
eng
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departments
Medical Sciences