Publications
Clinical geneticsJun 2023 DOI:
10.1111/cge.14382

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application

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
Product Used
NGS
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
Product Used
NGS

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