Table 2.
Frequency of pathogenic mutations in NPHS1, NPHS2, WT1, TRPC6, INF2, ACTN4, and CD2AP in 110 unrelated cases with SRNS
| Pathogenic Mutations | Total | Congenital Onset (0 to 3 months) | Infantile Onset (4 to 12 months) | Early Childhood Onset (13 months to 5 years) | Late Childhood Onset (6 to 12 years) | Adolescent Onset (13 to 18 years) | Adult Onset (>18 years) | Familial SRNS | Sporadic SRNS |
|---|---|---|---|---|---|---|---|---|---|
| No. of patients (cases) | 125 (110) | 15 (15) | 8 (7) | 24 (21) | 13 (11) | 9 (8) | 56 (48) | 35 (24) | 90 (86) |
| NPHS1, No. of cases (%) | 15 (13.5) | 12 (80) | 1 (14) | 0 (0) | 1 (9) | 0 (0) | 1 (2) | 6 (25) | 9 (11) |
| NPHS2, No. of cases (%) | 13 (12) | 1 (7) | 2 (29) | 3 (14) | 2 (18) | 1 (12.5) | 4 (8) | 8 (34) | 5 (6) |
| WT1, No. of cases (%) | 5 (4.5) | 2 (13) | 1 (14) | 2 (10) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (6) |
| TRPC6, No. of cases (%) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (9) | 0 (0) | 2 (4) | 1 (4) | 2 (2) |
| ACTN4, No. of cases (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| CD2AP, No. of cases (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| PLCE1 No. of cases (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | ND | ND | ND | 0 (0) | ND |
| INF2 No. of cases (%) | 1 (1) | ND | ND | ND | ND | 1 (12.5) | 0 (0) | 1 (4) | ND |
| No. of cases with mutations (%) | 37 (34) | 15 (100) | 4 (57) | 5 (24) | 4 (36) | 2 (25) | 7 (14) | 16 (67) | 21 (25) |
| No. of cases without mutations (%) | 73 (66) | 0 (0) | 3 (43) | 16 (76) | 7 (64) | 6 (75) | 41 (86) | 8 (33) | 65 (75) |
When two members of a single family presented an age of onset for the disease that fell between two different categories, we included both in the category of the patient presenting the earlier age of onset for NS. To calculate the percentage of mutations, we used the number of cases. ND, not determined.