Establishment of a comprehensive diagnostic method using next generation sequencer for Alport syndrome

• Project/Area Number: 16K19642
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: Yamamura Tomohiko 神戸大学, 医学部附属病院, 特定助教 (30770242)
• Research Collaborator: IIJIMA Kazumoto 神戸大学, 大学院医学研究科内科系講座小児化学分野, 教授 (00240854) ; NOZU Kandai 神戸大学, 大学院医学研究科内科系講座小児化学分野, 准教授 (70362796) ; MINAMIKAWA Shogo 神戸大学, 医学部付属病院, 特定助教 (10772634)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: Alport症候群 / 次世代シークエンサー / 網羅的遺伝子解析 / 体細胞モザイク / 高い診断能力 / 修飾遺伝子 / 診断

Outline of Final Research Achievements

We established a diagnostic system that comprehensively analyze podocyte-related 45 genes by targeted sequencing using next generation sequencer (NGS). We analyzed 185 families suspected as having Alport syndrome (AS) and causative variants were identified in 147 families. As a result of large-scale analysis, it was possible to analyze the genotype-phenotype correlation of AS and we reported on the details about female patients with X-linked AS.
We also clarified that NGS analysis detects other inherited kidney diseases, AS patients with copy number variation or somatic mosaic.

Research Products

• [Journal Article] Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases (2018)
  • Author(s): Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K
  • Journal Title: Clinical and Experimental Nephrology Volume: 印刷中 Issue: 4 Pages: 881-888
  • DOI: 10.1007/s10157-018-1534-x
  • NAID: 120006624236
  • Peer Reviewed
• [Journal Article] Natural History and Genotype?Phenotype Correlation in Female X-Linked Alport Syndrome (2017)
  • Author(s): Yamamura Tomohiko、Nozu Kandai、Fu Xue Jun、Nozu Yoshimi、Ye Ming Juan、Shono Akemi、Yamanouchi Satoko、Minamikawa Shogo、Morisada Naoya、Nakanishi Koichi、Shima Yuko、Yoshikawa Norishige、Ninchoji Takeshi、Morioka Ichiro、Kaito Hiroshi、Iijima Kazumoto
  • Journal Title: Kidney Int Rep. Volume: 2 Issue: 5 Pages: 850-855
  • DOI: 10.1016/j.ekir.2017.04.011
  • NAID: 120006373817
  • Peer Reviewed / Open Access
• [Journal Article] Female X-linked Alport syndrome with somatic mosaicism (2016)
  • Author(s): Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K.
  • Journal Title: Clin Exp Nephrol. Volume: 印刷中 Issue: 5 Pages: 877-883
  • DOI: 10.1007/s10157-016-1352-y
  • Peer Reviewed / Open Access
• [Presentation] 次世代シークエンサーを用いたAlport症候群の網羅的診断法の確立 (2018)
  • Author(s): 山村智彦
  • Organizer: 第121回日本小児科学会学術集会
• [Presentation] 次世代シークエンサーを用いたAlport症候群の網羅的診断法の確立 (2017)
  • Author(s): 山村智彦
  • Organizer: 第60回日本腎臓学会学術集会
• [Presentation] Establishment of a comprehensive diagnostic method using next generation sequencer for Alport syndrome (2017)
  • Author(s): 山村智彦
  • Organizer: 第52回日本小児腎臓病学会学術集会
• [Presentation] Establishment of a comprehensive diagnostic method using next generation sequencer for Alport syndrome (2017)
  • Author(s): 山村智彦
  • Organizer: 13th Asian Congress of Pediatric Nephrology
  • Int'l Joint Research