Next-generation sequencing has boosted gene discovery and facilitated the identification of previously unrecognized phenotypes associated with kidney disease genes, leading to reclassification of clinical diagnoses and broadening our understanding of the phenotypic spectrum of classic kidney disease-associated genes. Here, the authors discuss examples of genes and gene categories for which genetic studies have led to an expansion in our understanding of their phenotypic spectrums, both across and within current kidney disease categories.
- Marijn F. Stokman
- Kirsten Y. Renkema
- Albertien M. van Eerde