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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2019; 7(21): 3655-3661
Published online Nov 6, 2019. doi: 10.12998/wjcc.v7.i21.3655
Published online Nov 6, 2019. doi: 10.12998/wjcc.v7.i21.3655
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report
Na Li, Chong Qiao, Yuan Lv, Tian Yang, Hao Liu, Wen-Qian Yu, Cai-Xia Liu, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Na Li, Chong Qiao, Yuan Lv, Tian Yang, Hao Liu, Wen-Qian Yu, Cai-Xia Liu, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Shenyang 110004, Liaoning Province, China
Author contributions: Li N and Qiao C contributed equally to this work; Li N, Qiao C, Lv Y, and Liu CX designed the research; Li N, Liu H, and Yu WQ conducted the research; Li N, Lv Y, and Yang T analyzed the data; Li N, Yang T, Lv Y, and Qiao C wrote the paper; all authors read, reviewed, and approved the final manuscript; Liu CX had primary responsibility for final content.
Supported by the National Natural Science Foundation of China , No. 81701462 (to Lv Y) ; and the China National Health and Family Planning Commission , No. 201402006 (to Liu CX) .
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report and accompanying images.
Conflict-of-interest statement: The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper.
Data sharing statement: No additional data are available.
CARE Checklist (2016) statement: The authors have read the CARE Checklist statement, and the manuscript was prepared and revised according to the CARE Checklist statement.
Open-Access: This 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 Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Cai-Xia Liu, MD, Doctor, Professor, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No. 36, Sanhao Street, Shenyang 110004, Liaoning Province, China. liucx@sj-hospital.org
Telephone: +86-24-9661543221 Fax: +86-24-9661543221
Received: December 25, 2018
Peer-review started: December 27, 2018
First decision: March 10, 2019
Revised: August 23, 2019
Accepted: September 9, 2019
Article in press: September 9, 2019
Published online: November 6, 2019
Peer-review started: December 27, 2018
First decision: March 10, 2019
Revised: August 23, 2019
Accepted: September 9, 2019
Article in press: September 9, 2019
Published online: November 6, 2019
Core Tip
Core tip: Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements, and its etiology is heterogeneous. Mutations in genes expressed at the neuromuscular junction (NMJ) are increasingly recognized as important causes of FADS. MUSK is required for the formation and maintenance of the NMJ. Here we describe a compound heterozygous mutation of the MUSK gene that caused FADS in a Chinese fetus.