Table 2. Overview of genotypic data obtained by next-generation sequencing.
Total | Familial | Sporadic | Congenital onset | Early or late childhood onset | Adolescent or adult onset | |
---|---|---|---|---|---|---|
Validation cohort | 25 | 10 | 15 | 10 | 9 | 6 |
Patients with pathogenic mutations in an SRNS/FSGS gene | 23 | 9 | 14 | 9 | 8 | 6 |
Patients with mutations in an SRNS/FSGS gene and COL4A3 | 2 | 1 | 1 | 1 | 1 | 0 |
Patients with no pathogenic mutations found | 0 | 0 | 0 | 0 | 0 | 0 |
Discovery cohort | 25 | 15 | 10 | 5 | 12 | 8 |
Patients with pathogenic mutations in an SRNS/FSGS gene | 9 | 4 | 5 | 5 | 2 | 2 |
Patients with mutations in an SRNS/FSGS gene and COL4A3 | 1 | 1 | 0 | 0 | 0 | 1 |
Patients with no pathogenic mutations found | 15 | 10 | 5 | 0 | 10 | 5 |
Abbreviations: FSGS, focal segmental glomerulosclerosis; SRNS, steroid-resistant nephrotic syndrome. Onset was classified as follows: congenital, 0–3 months; early childhood, 4 months to 5 years; late childhood, 6–12 years; adolescent, 13–18 years; adult, >18 years.