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Dynein Axonemal Heavy Chain 10 Deficiency Causes Primary Ciliary Dyskinesia in Humans and Mice

This study identified a novel homozygous DNAH10 variant (c.589C>T, p.R197W) in a consanguineous PCD patient, found DNAH10/DNALI1 absence and axoneme defects in their cilia/flagella, and showed Dnah10 mutant mice recapitulated PCD phenotypes, confirming DNAH10 recessive mutations cause PCD.

September 17, 2025


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