Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report

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World Journal of Experimental Medicine

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2220-315x

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Exp Med. Dec 20, 2025; 15(4): 108404
Published online Dec 20, 2025. doi: 10.5493/wjem.v15.i4.108404

Table 1 Timeline of disease course and diagnostic interventions

Age (years)
0	Respiratory distress noted
2	Diagnosed with recurrent otitis media, underwent adenotonsillectomy
4	Exertional dyspnea, chronic cough
7	High-resolution computed tomography, nasal nitric oxide testing, and whole-exome sequencing performed

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

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 [PMID: 41497680 DOI: 10.5493/wjem.v15.i4.108404]

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