Establishment of a comprehensive diagnostic method using next generation sequencer for Alport syndrome
Description: 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.
Amount: ¥3,900,000
Funding type: fellowship
Funder scheme: Grant-in-Aid for Young Scientists (B)
Start date: 2016-04-01
End date: 2018-03-31
Investigator: Tomohiko Yamamura
Institution: Kobe University
Funded outputs count: 11
Funder award ID: 16K19642
OpenAlex ID: G4491173540