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September 5, 2025Orphanet Journal of Rare DiseasesOpen Access

DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation

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Authors

RZRui ZhengWYWenhao YangJYJierui Yan

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Overview

Two families with primary ciliary dyskinesia exhibited DNAH10 mutations, suggesting impaired ciliary function and lung fibrosis.

Key Points

  • Loss of DNAH10 function leads to defective cilia assembly and results in primary ciliary dyskinesia and pulmonary fibrosis.
  • Dnah10 knockout mice showed PCD symptoms, including chronic respiratory issues, confirming the gene's critical role in ciliary function.
  • Altered expression of ciliary proteins such as CFAP57 and DYNLL1 correlates with DNAH10 mutations and ciliary dysfunction.
  • These findings enhance understanding of ciliopathy mechanisms, indicating potential targets for therapeutic interventions.

Cite This Study

Zheng et al. (2025) studied this question.

synapsesocial.com/papers/68bb5f076d6d5674bcd02e13https://doi.org/10.1186/s13023-025-03977-w
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