Table 3.
Summary of the results of whole-exome sequencing in podocytopathy patients
| Patient | Sex | Ethnicity | Pre Whole-Exome Sequencing Diagnosis/Biopsy Results | Gene | Variant | Post Whole-Exome Sequencing Diagnosis | Phenotype OMIM Number (#) |
|---|---|---|---|---|---|---|---|
| Case 19 | M | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 20 | M | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 21 | F | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 22 | M | European | SRNS/MCD | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 23 | M | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 24 | M | European | SRNS/FSGS | NPHS2 | Hom | Nephrotic syndrome, type 2 | 600995 |
| Case 25 | F | European | SRNS/- | NPHS2 | Hom | Nephrotic syndrome, type 2 | 600995 |
| Case 26 | M | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 27 | F | European | SRNS/FSGS | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 28 | M | European | SRNS/MCD | NPHS2 | Comp het | Nephrotic syndrome, type 2 | 600995 |
| Case 29 | F | European | SRNS/- | NPHS1 | Comp het | Nephrotic syndrome, type 1 | 256300 |
| Case 30 | M | European | SRNS/FSGS | ANLN | Het | FSGS 8 | 616032 |
| Case 31 | M | European | SRNS/FSGS | PLCE1 | Comp het | Nephrotic syndrome, type 3 | 610725 |
| Case 32 | F | European | SRNS/DMS | PLCE1 | Comp het | Nephrotic syndrome, type 3 | 610725 |
| Case 33 | F | European | SRNS/FSGS | ACTN4 | Het | Glomerulosclerosis, focal segmental, 1 | 603278 |
| Case 34 | F | European | SRNS/FSGS | ACTN4 | Het | Glomerulosclerosis, focal segmental, 1 | 603278 |
| Case 35 | F | European | SRNS/FSGS | WT1 | Het | Nephrotic syndrome, type 4 | 256370 |
| Case 36 | F | European | SRNS/- | WT1 | Het | Nephrotic syndrome, type 4 | 256370 |
| Case 37 | M | European | SRNS/FSGS | WT1 | Het | Nephrotic syndrome, type 4 | 256370 |
All postwhole-exome sequencing diagnoses are defined according to OMIM nomenclature (https://www.omim.org). OMIM, Online Mendelian Inheritance in Man; M, male; SRNS, steroid-resistant nephrotic syndrome; Comp het, compound heterozygous; F, female; MCD, minimal change disease; Hom, homozygous; -, biopsy not performed; Het, heterozygous; DMS, diffuse mesangial sclerosis.