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. 2024 Jan;65(1):48-54.
doi: 10.3349/ymj.2023.0238.

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

Jiyoung Oh  1 , Jin-Sung Lee  2 , Moo Suk Park  3 , Young Ae Kang  3 , Hyung-Ju Cho  4 , Song Yee Kim  3 , Jinsei Jung  5 , Sun Och Yoon  6 , Kyung Won Kim  7
Affiliations

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

Jiyoung Oh et al. Yonsei Med J. 2024 Jan.

Abstract

Purpose: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population.

Materials and methods: Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM).

Results: Overall, PCD was diagnosed in 10 (21.3%) patients: eight by WES (8/47, 17%), four by TEM. Among patients diagnosed as PCD based on TEM results, two patients showed consistent results with WES and TEM of PCD (2/4, 50%). In addition, five patients, who were not included in the final PCD diagnosis group, had variants of unknown significance in PCD-related genes (5/47, 10.6%). The most frequent pathogenic (P)/likely pathogenic (LP) variants were detected in DNAH11 (n=4, 21.1%), DRC1 (n=4, 21.1%), and DNAH5 (n=4, 21.1%). Among the detected 17 P/LP variants in PCD-related genes in this study, 8 (47.1%) were identified as novel variants. Regarding the genotype-phenotype correlation in this study, the authors experienced severe PCD cases caused by the LP/P variants in MCIDAS, DRC1, and CCDC39.

Conclusion: Through this study, we were able to confirm the value of WES as one of the diagnostic tools for PCD, which increases with TEM, rather than single gene tests. These results will prove useful to hospitals with limited access to PCD diagnostic testing but with relatively efficient in-house or outsourced access to genetic testing at a pre-symptomatic or early disease stage.

Keywords: Primary ciliary dyskinesia; copy number variants analysis; genetic testing; transmission electron microscopy; whole exome sequencing.

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Conflict of interest statement

The authors have no potential conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1. (A) Family pedigrees of patients 4 and 5 in DNAH11. (B) Sanger sequencing results of the maternal allele (a) and paternal alleles (b), (c), (d).
See this image and copyright information in PMC

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