Publication Name	World Journal of Experimental Medicine
Manuscript ID	108404
Country	Egypt

Category	Pediatrics
Manuscript Type	Case Report
Article Title	Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report
Manuscript Source	Invited Manuscript
All Author List	Fawzyh Alkhadidi, Hassan AlSharif, Amjad AlQthami, Safiah H Alkhaldi, Shaher A Alsuwat, Salma AS Abosabie, Sara A Abosabie and Naglaa M Kamal
Funding Agency and Grant Number
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
Key Words	Primary ciliary dysfunction; Novel mutation; Pathogenic mutation; C3orf67; Case report
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.
Citation	AlKhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SAS, 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; In press

Received	2025-04-14 03:11
Peer-Review Started	2025-04-15 01:08
To Make the First Decision
Return for Revision	2025-04-27 02:34
Revised	2025-05-22 21:22
Second Decision	2025-09-03 02:48
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2025-09-03 08:23
Articles in Press	2025-09-03 08:23
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ISSN	2220-315x (online)
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