2021 Fiscal Year Final Research Report

Analysis of the disease causing genes of primary ciliary dyskinesia by gene panel and whole exosome analysis

Research Project

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Project/Area Number	19K09886
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Review Section	Basic Section 56050:Otorhinolaryngology-related
Research Institution	Mie University
Principal Investigator	TAKEUCHI Kazuhiko 三重大学, 医学系研究科, 教授 (50206942)
Co-Investigator(Kenkyū-buntansha)	北野雅子三重大学, 医学部附属病院, 助教 (20378334) 藤澤隆夫独立行政法人国立病院機構三重病院(臨床研究部), 独立行政法人国立病院機構三重病院, 名誉院長 (20511140) 中谷中三重大学, 医学部附属病院, 教授 (80237304)
Project Period (FY)	2019-04-01 – 2022-03-31
Keywords	線毛 / 遺伝子 / ゲノム / パネル / エクソーム
Outline of Final Research Achievements	Primary ciliary dyskinesia is a hereditary disease that causes chronic nasal sinusitis, otitis media, bronchiectasis, and situs inversus due to pathogenic variants of cilia-related genes. About 50 causative genes are known, but the frequency of causative genes in Japan had been unknown. It is known that the causative gene differs depending on the race, and in order to clarify the causative gene in Japan efficiently, gene analysis by a panel consisting of 32 known genes, followed by whole exosome analysis in case the panel failed to reveal the causative genes, was performed. As a result, it was clarified that the deletion of both alleles of DRC1 was the most frequent gene variant, followed by DNAH5. DRC1 is rare in other races and is presumed to be the causative gene characteristic of Japan or East Asia.
Free Research Field	耳鼻咽喉科
Academic Significance and Societal Importance of the Research Achievements	本邦の原発性線毛運動不全症の原因遺伝子として、DRC1の両アレルの欠損とDNAH5の病的バリアントが多いことが判明した。これにより本邦における遺伝学的検査が推進されると考えられる。また、世界的にみてDRC1の広範囲な欠損は韓国人と日本人で報告されているのみであり、人種による差異があることは興味深い。本症は小児慢性特定疾病であるが、成人においては指定難病ではない。患者は長期間にわたり呼吸機能障害に悩むので、今回の成果により指定難病申請を行い、指定難病となれば患者にとって得るところが大きい。