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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2022; 10(25): 9148-9155
Published online Sep 6, 2022. doi: 10.12998/wjcc.v10.i25.9148
Published online Sep 6, 2022. doi: 10.12998/wjcc.v10.i25.9148
CCNO mutation as a cause of primary ciliary dyskinesia: A case report
Yun-Yan Zhang, Hao Tang, Department of Respiratory and Critical Care Medicine, Changzheng Hospital, Naval Military Medical University, Shanghai 200003, China
Yan Lou, Department of Orthopedic Oncology, Spine Tumor Center, Changzheng Hospital, Naval Military Medical University, Shanghai 200003, China
Han Yan, Department of Nephrology, 905th Hospital of PLA Navy, Naval Military Medical University, Shanghai 200050, China
Author contributions: Zhang YY and Lou Y contributed to manuscript writing and editing; Yan H analyzed the data; Tang H designed the research study and revised the manuscript; all authors have read and approved the final manuscript.
Informed consent statement: The patient and her parents have provided the signed consent.
Conflict-of-interest statement: Zhang YY, Tang H are worked in Department of Respiratory and Critical Care Medicine, Changzheng Hospital, Naval Military Medical University; Lou Y is worked in Department of Orthopedic Oncology, Spine Tumor Center, Changzheng Hospital, Naval Military Medical University; Yan H is worked in Department of Nephrology, 905th Hospital of PLA NAVY, Naval Military Medical University.
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: Hao Tang, MD, PhD, Chief Doctor, Department of Respiratory and Critical Care Medicine, Changzheng Hospital, Naval Military Medical University, No. 415 Fengyang Road, Shanghai 200003, China. tanghao_0921@126.com
Received: April 24, 2022
Peer-review started: April 24, 2022
First decision: May 12, 2022
Revised: May 25, 2022
Accepted: July 20, 2022
Article in press: July 20, 2022
Published online: September 6, 2022
Processing time: 123 Days and 11.6 Hours
Peer-review started: April 24, 2022
First decision: May 12, 2022
Revised: May 25, 2022
Accepted: July 20, 2022
Article in press: July 20, 2022
Published online: September 6, 2022
Processing time: 123 Days and 11.6 Hours
Core Tip
Core Tip: Primary ciliary dyskinesia (PCD) is a disease that is genetically diverse. Despite the discovery of more than 40 pathogenic genes, there are still insufficient case reports to help clinical diagnosis and treatment. We describe a case of primary ciliary immobility dysfunction caused by mutations in the CCNO (encoding cyclin O) gene. The patient lacked the classic PCD triad and was readily overlooked. We require further genetic research and particular case reports.