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Article

A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.

Journal of human genetics - 1 Dec 2024

Hashizume Ryotaro, Xu Yifei, Ikejiri Makoto, Gotoh Shimpei, Takeuchi Kazuhiko

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by ciliary structural abnormalities and dysfunction, leading to chronic rhinosinusitis, otitis media with effusion, bronchiectasis, and infertility. Approximately half of Japanese PCD cases are attributed to variants in the dynein regulatory complex subunit 1 (DRC1) gene, predominantly featuring homogeneous deletions of exons 1-4 spanning 27,748...

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PMID: 39152285
DOI: 10.1038/s10038-024-01289-8

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