Related Experiment Video

Updated: Jun 16, 2025

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

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Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome

Yifei Xu1, Yuki Tsurinaga2, Tsubasa Matsumoto3

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

Case Reports in Genetics
|August 19, 2024
PubMed

Insights

Primary ciliary dyskinesia (PCD) in two boys resulted from novel OFD1 gene variants. These genetic mutations caused recurrent respiratory infections, but not oral-facial-digital syndrome type I.

Area of Science:

  • Genetics
  • Pediatrics
  • Cell Biology

Background:

  • Primary ciliary dyskinesia (PCD) is an inherited disorder affecting motile cilia function.
  • Genetic defects in motile cilia components cause PCD, leading to chronic respiratory issues.

Observation:

  • Two male pediatric patients presented with recurrent respiratory infections, a hallmark of PCD.
  • Clinical evaluation revealed no symptoms associated with oral-facial-digital syndrome type I in either case.

Findings:

  • Both patients were diagnosed with PCD due to hemizygous pathogenic variants in the OFD1 gene.
  • Case 1 harbored the variant NM_003611.3: c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]).
  • Case 2 presented with a previously unreported variant, NM_003611.3: c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]), in the OFD1 gene.

Implications:

  • This study expands the known spectrum of OFD1 gene variants associated with PCD.
  • Identifying novel variants aids in understanding OFD1's role in ciliary function and PCD pathogenesis.
  • Genetic diagnosis of PCD is crucial for appropriate clinical management and genetic counseling.

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