Lecture Code : GD01-S2
Session Name : Genetic Disease
Session Topic : Genetic Disease
Date & Time, Place : June 11 (Thu) / 15:00-17:00 / Room 4 (203), 2F
PKD Cohort Study in Korea: Clinical and Genetic Characteristics
Yun Kyu Oh
Seoul National University Boramae Medical Center, Republic of Korea
Autosomal dominant polycystic kidney disease (ADPKD) the most common inherited cystic kidney disease that affects 1 in every 4,000~10,000 people.
From May 2019 to June 2024, we recruited a total of 1,628 probands in the Korean genetic cohort study of inherited cystic kidney diseases. Among them, 1,495 patients were clinically ADPKD.
The study results showed a mutation detection rate of 57.5% in the Phase 1 cohort of 725 patients, 62.3% in typical ADPKD patients, and 41.8% in atypical cases. Of the 100 patients who had no mutations identified in the gene panel, additional PKD1 mutations were detected by long-range PCR in 79, increasing the overall detection rate to 62%. WES was performed on 125 patients, including those who had no mutations or VUS detected in the initial test, and IFT140 was identified as a new candidate gene.
In Phase 2, 770 patients were enrolled, of whom 761 underwent targeted gene panel testing. The mutation detection rate was 69.5%, and the additional long-range PCR or WES increased the detection rate to 80%.
Among 1,186 adult patients with typical ADPKD, the mutation detection rate of ciliopathy gene panel was 73.7%, but it improved to 88.4% as we performed secondary genetic testing in a stepwise manner: first a ciliopathy gene panel as a screening test followed by a few other genetic testing methods as secondary options including targeted exome sequencing for PKD1 after long-range polymerase chain reaction, familial segregation study, multiplex ligation-dependent probe amplification, whole exome sequencing and/or minigene assay as needed.
This study systematically elucidated the genetic characteristics of Korean ADPKD patients and significantly increased the diagnostic rate through stage-specific genetic testing.
Keywords: ADPKD, Genetic test