The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants

Affiliations

¹ The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan. nkeicho-tky@umin.ac.jp.
² Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
³ Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.

Editorial

Naoto Keicho et al. J Hum Genet. 2023 Aug.

. 2023 Aug;68(8):571-575.

doi: 10.1038/s10038-023-01166-w. Epub 2023 Jun 5.

¹ The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan. nkeicho-tky@umin.ac.jp.
² Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
³ Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.

No abstract available

References

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1. Zariwala MA, Knowles MR, Leigh MW, Primary Ciliary Dyskinesia. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(®). Seattle (WA): University of Washington; 1993 [updated 2019 Dec 5].
1. Xu Y, Feng G, Yano T, Masuda S, Nagao M, Gotoh S, et al. Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. J Hum Genet. 2023. https://doi.org/10.1038/s10038-023-01142-4 . Online ahead of print.
1. Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, et al. Primary ciliary dyskinesia in Japan: systematic review and meta-analysis. BMC Pulm Med. 2019;19:135. - DOI - PubMed - PMC
1. Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, et al. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genom Med. 2019;7:e838.