Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond

Jiyoung Oh, Jae Il Shin, Keumwha Lee, Cheol Ho Lee, Younhee Ko, Jin Sung Lee

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next-generation sequencing gene panel including 203 genes associated with kidney disease, as well as diseases originating in other organs with mimicking symptoms of kidney disease, to analyze 51 patients with nonspecific nephrogenic symptoms, followed by validation of its efficacy as a diagnostic tool. We simultaneously screened for copy number variants (CNVs) in each patient to obtain a higher diagnostic yield (molecular diagnostic rate: 39.2%). Notably, one patient suspected of having Bartter syndrome presented with chloride-secreting diarrhea attributable to homozygous SLC26A3 variants. Additionally, in eight patients, NGS confirmed the genetic causes of undefined kidney diseases (8/20, 40%), and initial clinical impression and molecular diagnosis were matched in 11 patients (11/20, 55%). Moreover, we found seven novel pathogenic/likely pathogenic variants in PKD1, PKHD1, COL4A3, and SLC12A1 genes, with a possible pathogenic variant in COL4A3 (c.1229G>A) identified in two unrelated patients. These results suggest that targeted NGS-panel testing performed with CNV analysis might be advantageous for noninvasive and comprehensive diagnosis of suspected genetic kidney diseases.

Original languageEnglish
Pages (from-to)236-249
Number of pages14
JournalClinical Genetics
Issue number2
Publication statusPublished - 2021 Feb

Bibliographical note

Publisher Copyright:
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond'. Together they form a unique fingerprint.

Cite this