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June 4, 2026CellsOpen Access

Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia

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Authors

CHCatarina HilárioUniversity of Trás-os-Montes and Alto DouroSRSara RaimundoUniversity of Trás-os-Montes and Alto DouroCDCatarina DiasUniversidade do Porto

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Implication

Randomized trial characterizes ciliary dysfunction in a consanguineous family, indicating complex genetics in disease diagnosis.

Key Points

  • To identify and characterize a novel DNAH5 intronic deletion linked to primary ciliary dyskinesia in a consanguineous family.
  • Whole-exome sequencing to detect mutations in DNAH5
  • Digital high-speed videomicroscopy to assess ciliary beating frequency
  • Transmission electron microscopy to analyze ultrastructural features of cilia
  • Identified a novel c.13723+4del intronic deletion in DNAH5
  • Observed absent ciliary beating frequency and absent outer dynein arms
  • Confirmed absence of DNAH5 protein in cilia with distinct splicing defects in mRNA

Cite This Study

Hilário et al. (2026) studied this question.

synapsesocial.com/papers/6a211611d499ed480b16f110https://doi.org/10.3390/cells15111022
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