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

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 <i>C3orf67</i> gene expands the known genetic landscape of the disease. Further research is essential to clarify the functional role of <i>C3orf67</i> in ciliary biology and its contribution to PCD pathogenesis.

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Publication Details

Journal
World Journal of Experimental Medicine
Published
2025-12-19
DOI
https://doi.org/10.5493/wjem.v15.i4.108404
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
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article

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

World Journal of Experimental Medicine
Cystic Fibrosis Research Advances
article

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

article en

Abstract

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 <i>C3orf67</i> gene expands the known genetic landscape of the disease. Further research is essential to clarify the functional role of <i>C3orf67</i> in ciliary biology and its contribution to PCD pathogenesis.

World Journal of Experimental MedicineVol. 15(4)
Cairo University (EG), University of Würzburg (DE), Armed Forces Hospital (SA), Charité - Universitätsmedizin Berlin (DE)
Openalex Percentile: Top 29%
Cystic Fibrosis Research Advances
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