Table 1.

International cohort of 526 of the 1783 families, in whom a single-gene cause of SRNS was detected in 1 of 21 monogenic causes of SRNS (27 genes examined)

Gene Causing SRNSMode of InheritanceSRNS Families Molecularly Diagnosed by Sanger Sequencing (Published Previously), naSRNS Families Molecularly Diagnosed by Multiplex PCR (n)Total SRNS Families with Molecular Diagnosis (% of Families)
NPHS2AR170 (42)7177 (9.93)
NPHS1AR93 (61)38131 (7.34)
WT1AD78 (50)785 (4.77)
PLCE1AR23 (16)1437 (2.17)
LAMB2AR10 (6)1020 (1.12)
SMARCAL1AR1 (0)1516 (0.89)
INF2AD2 (0)79 (0.5)
TRPC6AD1 (1)89 (0.53)
COQ6AR6 (5)28 (0.45)
ITGA3AR3 (3)25 (0.28)
MYO1EAR0 (0)55 (0.28)
CUBNAR1 (1)45 (0.28)
COQ2AR0 (0)44 (0.22)
LMX1BAD0 (0)44 (0.22)
ADCK4AR3 (3)03 (0.17)
DGKE1AR0 (0)22 (0.11)
PDSS2AR0 (0)22 (0.11)
ARHGAP24AD0 (0)11 (0.06)
ARHGDIAAR1 (1)01 (0.06)
CFHAR0 (0)11 (0.06)
ITGB4AR0 (0)11 (0.06)
 Total392 (189)134526 (29.5)
  • AD, autosomal dominant; AR, autosomal recessive.

  • a Number in parenthesis show “molecularly solved” families with causative mutation detected that were published before from our cohort (see literature).