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12/19/2025 8:32:38 AM | Browse: 8 | Download: 45
Publication Name World Journal of Experimental Medicine
Manuscript ID 108404
Country Egypt
Received
2025-04-14 03:11
Peer-Review Started
2025-04-15 01:08
First Decision by Editorial Office Director
2025-04-27 02:34
Return for Revision
2025-04-27 02:34
Revised
2025-05-22 21:22
Publication Fee Transferred
Second Decision by Editor
2025-09-03 02:48
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2025-09-03 08:23
Articles in Press
2025-09-03 08:23
Edit the Manuscript by Language Editor
Typeset the Manuscript
2025-12-08 09:30
Publish the Manuscript Online
2025-12-19 08:32
ISSN 2220-315x (online)
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: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
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
ORCID
Author(s) ORCID Number
Naglaa M Kamal http://orcid.org/0000-0002-8535-3838
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.
Publish Date 2025-12-19 08:32
Citation

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

URL https://www.wjgnet.com/2220-315x/full/v15/i4/108404.htm
DOI https://dx.doi.org/10.5493/wjem.v15.i4.108404
Full Article (PDF) WJEM-15-108404-with-cover.pdf
CARE Checklist–2016 108404-CARE-Checklist-2016.pdf
Manuscript File 108404_Auto_Edited_032243.docx
Answering Reviewers 108404-answering-reviewers.pdf
Audio Core Tip 108404-audio.mp3
Conflict-of-Interest Disclosure Form 108404-conflict-of-interest-statement.pdf
Copyright License Agreement 108404-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 108404-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 108404-non-native-speakers.pdf
Peer-review Report 108404-peer-reviews.pdf
Scientific Misconduct Check 108404-scientific-misconduct-check.png
Scientific Editor Work List 108404-scientific-editor-work-list.pdf
CrossCheck Report 108404-crosscheck-report.pdf