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

2017 Fiscal Year Final Research Report

• 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
• Keywords: Alport症候群 / 次世代シークエンサー / 網羅的遺伝子解析

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.

Free Research Field

小児腎臓病学