[HTML][HTML] Reverse phenotyping after whole-exome sequencing in steroid-resistant nephrotic syndrome
S Landini, B Mazzinghi, F Becherucci… - Clinical Journal of the …, 2020 - journals.lww.com
Results A total of 111 patients (64 steroid-resistant and 47 steroid-sensitive) were included
in the study. Not a single pathogenic variant was detected in the steroid-sensitive group.
Overall, 30%(19 out of 64) of steroid-resistant patients had pathogenic variants in
podocytopathy genes, whereas a substantial number of variants were identified in other
genes, not commonly associated with isolated nephrotic syndrome. Reverse phenotyping,
on the basis of a personalized diagnostic workflow, permitted to identify previously …
in the study. Not a single pathogenic variant was detected in the steroid-sensitive group.
Overall, 30%(19 out of 64) of steroid-resistant patients had pathogenic variants in
podocytopathy genes, whereas a substantial number of variants were identified in other
genes, not commonly associated with isolated nephrotic syndrome. Reverse phenotyping,
on the basis of a personalized diagnostic workflow, permitted to identify previously …
