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© 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background

Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms.

Methods

In 105 Japanese patients with recurrent sinopulmonary infection, initially diagnosed with DPB, and 37 patients with recurrent airway infection diagnosed in adulthood, the deletion allele of DRC1 or CCDC164, recently recognized as a pathogenic PCD gene variant, was searched using a multiplexed PCR‐based method, and the deletion breakpoints and other variants around the gene were determined by Sanger sequencing and targeted resequencing.

Results

A large homozygous deletion in DRC1 was identified in three of the 142 patients. Furthermore, heterozygous carriers of the deletion with the same breakpoint were found with the allele frequency of 0.002 in the healthy Japanese population, indicating that this loss‐of‐function variant may be acting as a common mutation causing PCD in Japanese.

Conclusion

PCD caused by the DRC1 defect is not readily identified by either high‐speed video‐microscopy or ciliary ultrastructure analysis, posing significant difficulties in reaching a correct diagnosis without the aid of genetic tests. Careful investigation of the causes of sinopulmonary diseases is warranted in Asian populations.

Details

Title
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1 in Japanese patients with recurrent sinopulmonary infection
Author
Keicho, Naoto 1   VIAFID ORCID Logo  ; Hijikata, Minako 2 ; Morimoto, Kozo 3   VIAFID ORCID Logo  ; Homma, Sakae 4 ; Taguchi, Yoshio 5 ; Azuma, Arata 6   VIAFID ORCID Logo  ; Kudoh, Shoji 7 

 The Research Institute of Tuberculosis, Japan Anti‐Tuberculosis Association, Tokyo, Japan 
 Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti‐Tuberculosis Association, Tokyo, Japan 
 Respiratory Disease Center, Fukujuji Hospital, Japan Anti‐Tuberculosis Association, Tokyo, Japan 
 Department of Advanced and Integrated Interstitial Lung Diseases Research, School of Medicine, Toho University, Tokyo, Japan 
 Department of Respiratory Medicine, Tenri Hospital, Nara, Japan 
 Division of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan 
 Japan Anti‐Tuberculosis Association, Tokyo, Japan 
Section
ORIGINAL ARTICLES
Publication year
2020
Publication date
Jan 2020
Publisher
John Wiley & Sons, Inc.
e-ISSN
23249269
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2343822988
Copyright
© 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.