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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
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Multifaceted Primary Ciliary Dyskinesia-A Case Report
Dinnar Yahya1,2, Miroslava Benkova-Petrova3,4, Aleksandar Petrov3,4
1Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
Reports (MDPI)
|July 29, 2025
Summary
Ciliopathies, disorders affecting cilia, present diverse symptoms and can cause diagnostic delays. This case highlights a rare RSPH3 gene variant causing primary ciliary dyskinesia, emphasizing genetic testing for accurate diagnosis.
Area of Science:
- Medical Genetics
- Rare Diseases
- Cilia Biology
Background:
- Ciliopathies are a diverse group of genetic disorders stemming from primary cilium dysfunction.
- Symptoms range from infertility and lung infections to kidney diseases like polycystic kidney disease.
- Genetic and clinical heterogeneity often complicates diagnosis, necessitating advanced genetic testing.
Observation:
- A 43-year-old male presented with a complex history including nephrolithiasis, bronchiectasis, recurrent otitis media, and infertility.
- Extensive clinical evaluations preceded referral for genetic counseling.
- Whole exome sequencing identified a homozygous pathogenic variant in the RSPH3 gene (NM_031924.8:c.205-2A>G).
Findings:
- The identified RSPH3 variant is classified as pathogenic and linked to primary ciliary dyskinesia (PCD).
- This case illustrates a non-typical presentation of PCD, contributing to a prolonged diagnostic odyssey.
- RSPH3 variants are a rare cause of primary ciliary dyskinesia.
Implications:
- Early consideration of ciliopathies, including rare genetic variants, in differential diagnosis is crucial.
- Multidisciplinary collaboration involving clinical geneticists can shorten diagnostic timelines.
- Genetic confirmation is vital for appropriate patient management, genetic counseling, and family planning.
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