Table 2. Comparative summary chart of all Indian pathogenic variants, histopathology type, and their outcome.
| Patient number | Age of onset | Histopathology report | Variant change | ACMG criteria report | Zygosity | Type of mutation | Gene involved | Exons | Outcome | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | 3.5 y | FSGS | R71X; Arg71X | Pathogenic | Homozygous | Nonsense | NPHS2 | 1 | ESRD by 5 y and death by 6 y | 6 |
| Case 2 | 2.5 y | FSGS | R71X; Arg71X | Pathogenic | Homozygous | Nonsense | NPHS2 | 1 | CKD stage 3 (at 4.5 y) | 6 |
| Case 3 | 1.5 y | DMS | R752X; Arg752X | Pathogenic | Homozygous | Nonsense | PLCe1 | 7 | ESRD in 1 y of diagnosis at 2.5 y of age | 6 |
| Case 4 | 1.2 y | FSGS | g.179521737C > T (nucleotide change) | Pathogenic | Homozygous | Splice site | NPHS2 | Splice site | ESRD by the age of 3 y | 6 |
| Case 5 | 10 mo | MHC | G968V; Gly968Val | Pathogenic | Homozygous | Missense | NPHS1 | 21 | Remission in last follow-up | 6 |
| Case 6 | 4 y | FSGS | P316S; Pro316Ser | Pathogenic | Homozygous | Missense | NPHS2 | 8 | Alive | 7 |
| Case 7 | 3 y | FSGS | 42dElG; 42delGly | Pathogenic | Homozygous | Frameshift | NPHS2 | 1 | Alive | 7 |
| Case 8 | NM | FSGS | L167P;Leu167Pro | Pathogenic | Homozygous | Missense | NPHS2 | 4 | – | 8 |
| Case 9 | NM | FSGS | R168H; Arg168His | Pathogenic | Homozygous | Missense | NPHS2 | 4 | – | 8 |
| Case 10 | NM | FSGS | R168H; Arg168His | Pathogenic | Homozygous | Missense | NPHS2 | 4 | – | 8 |
| Case 11 | NM | FSGS | R168H; Arg168His | Pathogenic | Homozygous | Missense | NPHS2 | 4 | – | 8 |
| Case 12 | NM | FSGS | R196G;Arg196Gly | Pathogenic | Homozygous | Missense | NPHS2 | 5 | – | 8 |
| Case 13 | NM | FSGS | S46P;Ser46Pro | Pathogenic | Homozygous | Missense | NPHS2 | 1 | – | 8 |
| Case 14 | NM | FSGS | Q219L;Gln219Leu | Pathogenic | Homozygous | Missense | NPHS2 | 5 | – | 8 |
| Case 15 | NM | FSGS | S192F;Ser192Phe | Pathogenic | Homozygous | Missense | NPHS2 | 8 | – | 8 |
| Case 16 | NM | FSGS | P175S;Pro175Ser | Pathogenic | Homozygous | Missense | NPHS2 | 4 | – | 8 |
| Case 17 | 5 y | FSGS | IVS 9 + 4 C > T; | Pathogenic | Splice site mutation | WT1 | Intron 9 | Renal transplant and hormonal replacement therapy | 9 | |
| Case 18 | 6 y | FSGS | IVS 9 + 4 C > T | Pathogenic | Heterozygous | Splice site mutation | WT1 | Intron 9 | ESRD, death | 9 |
| Case 19 | 2 y | MCN | IVS 9 + 4G > A | Pathogenic | Heterozygous | Splice site mutation | WT1 | Intron 9 | Infrequent relapsing nephrotic syndrome | 9 |
| Case 20 | 2 y | Not mentioned | R71X;Arg71X | Pathogenic | Heterozygous | Missense | NPHS2 | 1 | Progressed to stage CKD V by 6 y | 10 |
| P2 | 3 y 4 mo | FSGS | c.1_274del?(;) c.1234G > T; p.Gly412 Cys | Pathogenic | Cannot be commented | Frameshift, missense | NPHS1 | Exon 1, 2 deletion; exon 10 | Alive and responded to immunosupressive drugs | Present study |
| P9 | 16 y 4 mo | FSGS | c.574C > A;p.Pro193 Thr | Pathogenic | Heterozygous | Missense | INF2 | 4 | Alive and nonresponsive to immunosupressive drugs | Present study |
| P10 | 9 y 2 mo | FSGS | c.695C > T; p.Thr232Ile | Pathogenic | Homozygous | Missense | NPHS2 | 5 | Alive and nonresponsive to immunosuppressive drugs | Present study |
Abbreviations: ACMG, American College of Medical Genetics and Genomics; FSGS, focal segmental glomerulosclerosis; DMS, diffuse mesangial sclerosis; ESRD, end-stage renal disease; MHC, mesangial hypercellularity; MCN, minimal change nephrotic; INF2, inverted formin 2; CKD, chronic kidney disease; NM, not mentioned.