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Updated: Nov 10, 2025

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

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A pediatric case of primary ciliary dyskinesia caused by novel copy number variation in PIH1D3

Yifei Xu1, Satoru Ogawa2, Yuichi Adachi3

  • 1Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.

Auris, Nasus, Larynx
|April 4, 2021
PubMed

Insights

This study identifies a Japanese infant with primary ciliary dyskinesia (PCD) due to PIH1D3 gene copy number variation. This finding highlights a novel genetic cause for PCD in this population.

Area of Science:

  • Genetics
  • Respiratory Medicine
  • Cell Biology

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting motile cilia.
  • Chronic respiratory infections and situs inversus are common manifestations.
  • Genetic heterogeneity of PCD presents diagnostic challenges.

Observation:

  • An 11-month-old Japanese boy presented with persistent productive cough, nasal obstruction, wheezing, and rhinorrhea.
  • Clinical evaluation revealed secretory otitis media, chronic sinusitis, and bronchiectasis.
  • Nasal cilia examination using transmission electron microscopy showed defects in dynein arms.

Findings:

  • Genetic analysis identified a copy number variation in the PIH1 domain-containing 3 (PIH1D3) gene in the patient and his mother.
  • This is the first reported case of PCD in a Japanese patient caused by PIH1D3 copy number variation.
  • Defects in outer and inner dynein arms correlate with the observed ciliary dysfunction.

Implications:

  • This case expands the known genetic spectrum of primary ciliary dyskinesia.
  • PIH1D3 copy number variation should be considered in the genetic diagnosis of PCD, particularly in diverse ethnic groups.
  • Early diagnosis and genetic understanding are crucial for managing PCD and its complications.

Keywords:
Copy number variationGenePIH1D3Whole exome sequencingX-linked inheritance

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