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Updated: Aug 5, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

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

Wajd A Althakfi1

  • 1Department of Pathology, College of Medicine, King Saud University, King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia.

Fetal and Pediatric Pathology
|July 30, 2026
PubMed

Insights

This study details the genetic and microscopic findings in Saudi children with primary ciliary dyskinesia (PCD), a rare inherited ciliary disorder. Transmission electron microscopy and whole exome sequencing were key to identifying genetic variants and ultrastructural defects.

Area of Science:

  • Genetics
  • Pathology
  • Pediatrics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare inherited disorder affecting motile cilia, leading to chronic oto-sinopulmonary disease.
  • Transmission electron microscopy (TEM) is crucial for diagnosing PCD by identifying ultrastructural defects, particularly in resource-limited areas.

Purpose of the Study:

  • To characterize the clinicopathologic and molecular spectrum of primary ciliary dyskinesia (PCD) in Saudi children.
  • To establish genotype-phenotype correlations in this cohort.

Main Methods:

  • Retrospective review of ten Saudi children diagnosed with PCD between 2018 and 2025.
  • Analysis of clinical, radiological, ultrastructural (TEM), and whole exome sequencing (WES) data.

Main Results:

  • The cohort comprised seven females and three males with a median age of 9 years; 80% had consanguinity, and five presented with situs inversus.
  • TEM revealed class 1 defects in 3 patients, class 2 in 2, and uncertain abnormalities in 3.
  • Whole exome sequencing identified pathogenic variants in genes including DNAAF3, DNAAF4, RSPH9, GAS2L2, and NME5.

Conclusions:

  • This study broadens the understanding of the molecular and ultrastructural profile of PCD within the Saudi Arabian population.
  • Transmission electron microscopy remains indispensable for PCD diagnosis and aids in the interpretation of genetic variants.

Keywords:
Saudi Arabiagenotype–phenotype correlationprimary ciliary dyskinesiatransmission electron microscopywhole exome sequencing

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