Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
- Authors
- Jung, Jiwon; Lee, Joo Hoon; Seo, Go Hun; Keum, Changwon; Kang, Hee Gyung; Cho, Heeyeon; Lee, Hajeong; Park, Su-Kil; Baek, Chung Hee; Han, Ro; Lee, Sang Taek; Cho, Min Hyun; Yim, Hyung Eun; Koo, Ja wook; Lee, Beom Hee
- Issue Date
- Sep-2023
- Publisher
- Blackwell Publishing Inc.
- Keywords
- diagnosis; genetic kidney disease; phenotype; whole exome sequencing
- Citation
- Clinical Genetics, v.104, no.3, pp 298 - 312
- Pages
- 15
- Indexed
- SCIE
SCOPUS
- Journal Title
- Clinical Genetics
- Volume
- 104
- Number
- 3
- Start Page
- 298
- End Page
- 312
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2021.sw.kumedicine/63364
- DOI
- 10.1111/cge.14382
- ISSN
- 0009-9163
1399-0004
- Abstract
- The genetic spectrum of genetic kidney diseases (GKD) and the application of genetic diagnoses to patient care were assessed by whole exome sequencing (WES) of the DNA of 172 pediatric or adult patients with various kidney diseases. WES diagnosed genetic diseases in 63 (36.6%) patients. The diagnostic yields in patients with glomerulopathy were 33.8% (25/74 pts) due to variants in 10 genes, 58.8% (20/34) in patients with tubulointerstitial disease due to variants in 18 genes, 33.3% (15/45) in patients with cystic disease/ciliopathy due to variants in 10 genes, 18.2% (2/11) in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) due to variants in two genes, and 12.5% (1/8) in patients with end stage kidney disease (ESKD). The diagnosis rate was high in patients aged <1-6 years (46-50.0%), and low in patients aged >= 40 years (9.1%). Renal phenotype was reclassified in 10 (15.9%) of 63 patients and clinical management altered in 10 (15.9%) of 63 patients after genetic diagnosis. In conclusion, these findings demonstrated the diagnostic utility of WES and its effective clinical application in patients, with various kinds of kidney diseases, across the different age groups.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - 2. Clinical Science > Department of Pediatrics > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.