Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM. Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. World J Exp Med 2025; 15(4): 108404 [DOI: 10.5493/wjem.v15.i4.108404]
Corresponding Author of This Article
Naglaa M Kamal, MD, Professor, Department of Pediatrics, Kasralainy Faculty of Medicine, Cairo University, 1 Gamaa Street, Cairo 12613, Egypt. nagla.kamal@medicine.cu.edu.eg
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Pediatrics
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Case Report
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This article is an open-access article which 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/
Dec 20, 2025 (publication date) through Dec 19, 2025
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World Journal of Experimental Medicine
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Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM. Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. World J Exp Med 2025; 15(4): 108404 [DOI: 10.5493/wjem.v15.i4.108404]
World J Exp Med. Dec 20, 2025; 15(4): 108404 Published online Dec 20, 2025. doi: 10.5493/wjem.v15.i4.108404
Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report
Fawzyh Alkhadidi, Hassan AlSharif, Amjad AlQthami, Safiah H Alkhaldi, Shaher A Alsuwat, Salma AS Abosabie, Sara A Abosabie, Naglaa M Kamal
Fawzyh Alkhadidi, Amjad AlQthami, Safiah H Alkhaldi, Shaher A Alsuwat, Department of Pediatric, Al Hada Armed Forces Hospital, Mecca 26792, Saudi Arabia
Hassan AlSharif, Department of Intensive Care, Al Hada Armed Forces Hospital, Mecca 26792, Saudi Arabia
Salma AS Abosabie, Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Wurzburg 97070, Germany
Sara A Abosabie, Faculty of Medicine, Charité-Universitätsmedizin Berlin, Berlin 10117, Germany
Naglaa M Kamal, Department of Pediatrics, Kasralainy Faculty of Medicine, Cairo University, Cairo 12613, Egypt
Co-first authors: Fawzyh Alkhadidi and Hassan AlSharif.
Author contributions: Alkhadidi F and AlSharif H conceptualized the study; AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SAS, and Abosabie SA contributed to investigation and writing original draft; Alkhadidi F, AlSharif H, and Kamal NM contributed to writing - original draft & review/editing. Alkhadidi F and AlSharif H contributed equally to this manuscript and are co-first authors.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Naglaa M Kamal, MD, Professor, Department of Pediatrics, Kasralainy Faculty of Medicine, Cairo University, 1 Gamaa Street, Cairo 12613, Egypt. nagla.kamal@medicine.cu.edu.eg
Received: April 14, 2025 Revised: May 22, 2025 Accepted: September 3, 2025 Published online: December 20, 2025 Processing time: 250 Days and 7.9 Hours
Abstract
BACKGROUND
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by motile cilia dysfunction. Identifying pathogenic variants is essential for diagnosis and personalized care, especially in consanguineous populations like Saudi Arabia.
CASE SUMMARY
This report presents a Saudi pediatric patient diagnosed with PCD who exhibited persistent neonatal tachypnea, chronic productive cough, and recurrent otitis media. Whole-exome sequencing revealed a novel homozygous nonsense variant in the C3orf67 gene (NM_198463.2:c.508C>T), resulting in a truncated, non-functional protein. This mutation likely impairs ciliary motility due to the production of a truncated, non-functional protein. The clinical findings were supported by multiple positive sputum cultures and a significant family history of similar symptoms, suggesting a genetic etiology consistent with autosomal recessive inheritance.
CONCLUSION
This case highlights the importance of genetic studies in diagnosing PCD, particularly in communities with a high rate of consanguinity. The identification of a novel homozygous variant in the C3orf67 gene expands the known genetic landscape of the disease. Further research is essential to clarify the functional role of C3orf67 in ciliary biology and its contribution to PCD pathogenesis.
Core Tip: This case report identifies a novel homozygous variant in the C3orf67 gene associated with primary ciliary dyskinesia (PCD) in a Saudi child, expanding the known genetic spectrum of PCD. Through comprehensive clinical evaluation and whole-exome sequencing, this study highlights the importance of genetic testing in early and accurate diagnosis of PCD, particularly in populations with high consanguinity. The findings underscore the need for further research into C3orf67 pathogenic role and reinforce the utility of precision medicine in managing rare ciliopathies.
