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. 2014 Nov 19;23(9):1192–1199. doi: 10.1038/ejhg.2014.252

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.