Case Report
Copyright ©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
CCNO mutation as a cause of primary ciliary dyskinesia: A case report
Yun-Yan Zhang, Yan Lou, Han Yan, Hao Tang
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
Abstract
BACKGROUND

Primary ciliary dyskinesia (PCD) is an uncommon and genetically diverse condition. According to reports, most patients had more than 50 visits before being diagnosed with PCD, and the age at diagnosis was mostly in preschool, with an average age of about (10.9 ± 14.4) years old. CCNO is a pathogenic gene that regulates the cell cycle, and its mutation is linked to the uncommon human genetic disorder PCD. Although the prevalence of the CCNO mutation is regarded to be exceptionally low, new reports of this mutation have increased in comparison to prior ones. PCD patients with CCNO are rare, and the incidence rate is no more than 2% in whole PCD patients.

CASE SUMMARY

Here, we report a case of a young Chinese woman diagnosed with PCD, who was found to carry the CCNO gene by whole exon gene sequencing. In this case, a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth. Chest computed tomography (CT) showed bronchiectasis with infection, and sinus CT showed chronic sinusitis. However, the patient had no visceral transposition and no history of infertility. Under electron microscope, it was found that cilia were short and reduced in number, and no power arm of cilia was observed. Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene, exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation. Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.

CONCLUSION

The results showed that CCNO is an important cause of PCD. More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced. Furthermore, the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.

Keywords: Primary ciliary immobility disorder; CCNO gene; Whole exon gene sequencing; Clinical profiles; Review of literature; Case report

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.