CCNO mutation as a cause of primary ciliary dyskinesia: A case report

Yun-Yan Zhang; Yan Lou; Han Yan; Hao Tang

doi:10.12998/wjcc.v10.i25.9148

CCNO mutation as a cause of primary ciliary dyskinesia: A case report

World J Clin Cases. 2022 Sep 6;10(25):9148-9155. doi: 10.12998/wjcc.v10.i25.9148.

Authors

Yun-Yan Zhang¹, Yan Lou², Han Yan³, Hao Tang⁴

Affiliations

¹ Department of Respiratory and Critical Care Medicine, Changzheng Hospital, Naval Military Medical University, Shanghai 200003, China.
² Department of Orthopedic Oncology, Spine Tumor Center, Changzheng Hospital, Naval Military Medical University, Shanghai 200003, China.
³ Department of Nephrology, 905Hospital of PLA Navy, Naval Military Medical University, Shanghai 200050, China.
⁴ Department of Respiratory and Critical Care Medicine, Changzheng Hospital, Naval Military Medical University, Shanghai 200003, China. tanghao_0921@126.com.

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

Publication types

Case Reports