Related Experiment Video
Updated: Aug 5, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Genotype and Ultrastructure Correlation in Primary Ciliary Dyskinesia Among Saudi Children: A Case Series
1Department of Pathology, College of Medicine, King Saud University, King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia.
None:
Background: Primary ciliary dyskinesia (PCD) is a rare inherited disorder of motile cilia causing chronic oto-sinopulmonary disease. Transmission electron microscopy (TEM) remains essential for confirming ultrastructural defects, especially in resource-limited settings. This study characterizes the clinicopathologic and molecular spectrum of Saudi children with PCD. Methods: Ten Saudi children with confirmed PCD (2018-2025) were retrospectively reviewed. Clinical, radiological, ultrastructural, and whole exome sequencing (WES) data were analyzed to assess genotype-phenotype correlation. Results: The cohort included seven females and three males (median age 9 years). Consanguinity was present in 80%, and five had situs inversus. TEM showed class 1 defects in 3 patients, class 2 in 2, and abnormalities of uncertain significance in 3. WES identified variants in DNAAF3, DNAAF4, RSPH9, GAS2L2, and NME5. Conclusions: This study expands the molecular and ultrastructural profile of PCD in Saudi Arabia. TEM remains essential for diagnosis and variant interpretation.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Karyotyping
Microtubules in Signaling
Pedigree Analysis
Sex-linked Disorders
