講演情報
[O18-4]本邦の線毛機能不全症候群患者における原因遺伝子のバリアントの解析
○竹内 万彦1, 徐 軼菲1, 馮 国飛1, 千代延 和貴1, 坂井田 寛1, 小川 覚2, 池尻 誠3, 増田 佐和子4, 長尾 みづほ5, 奥川 喜永6, 中谷 中7, 田辺 正樹3 (1.三重大学 大学院 医学系研究科 耳鼻咽喉・頭頸部外科, 2.三重大学 大学院 医学系研究科 電子顕微鏡室, 3.三重大学医学部附属病院 中央検査部, 4.国立病院機構三重病院 耳鼻咽喉科, 5.国立病院機構三重病院 臨床研究部, 6.三重大学医学部附属病院 ゲノム診療科, 7.伊賀市立上野総合市民病院 健診センター)
【Objective】Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. In addition to genetic analysis, electron microscopy is required for proper diagnosis of the disease, which makes the diagnosis difficult. 【Methods】We examined 90 patients (ages ranging from 1 month to 66 years) who had been diagnosed as PCD for the past ten years. Gene variants as well as CNV was examined either by exome sequencing NGS panel for 32 known PCD genes with the Ion Torrent PGM system, or by whole-exome sequencing with the Ion Proton semiconductor sequencer system (Life Technologies; Thermo Fisher Scientific, Inc.). Variants found were validated by Sanger sequencing. Nasal nitric oxide concentration was measured, and the nasal ciliary ultrastructure was examined with an electron microscope when possible. Phenotypes have been examined and compared to the genetic analysis results.【Results】Disease causing genes were DRC1 in 31 cases, DNAH5 in 29 cases, DNAH11 in 7,CCDC39 in 4, and other genes in 18. When we compared these results with those reported in other ethical groups, Japanese patients had very characteristic disease causing genes and variants.【Conclusion】The knowledge of the prevalent PCD genes will be useful for making strategy of genetic testing in the future.