Table 1.

A total of 430 patients from 404 families with SRNS analyzed for mutations and sequence changes in NPHS2a

GroupNPHS2 MutationAffected IndividualsAffected FamiliesMean Onset (yr)Onset Range (yr)
TotalOnset knownTotalOnset known
ATruncating × anyb323129281.75c0.0 to 9.1
BR138Q × R138Q272622211.77c0.0 to 5.4
CR138Q × missense109985.950.0 to 14.3
DMissense × missense131213124.170.0 to 16.6
827873692.610.0 to 16.6
ESingle × R229Q141313126.740.8 to 16.3
FSingle × ?99888.121.6 to 14.7
GR229Q × R229Q22226.480.0 to 13.0
R229Q × ?24232423
494747456.870.0 to 16.3
HNo mutation2992672842536.40.0 to 21.0
Total4303924043675.710.0 to 21.0
  • a A total of 430 patients from 404 families with SRNS were analyzed by direct exon sequencing for sequence changes in NPHS2. Clinical data on 392 patients from 367 families allowed for correlation on NPHS2 sequence variants with age of onset. Patients were categorized into patients with two disease-causing NPHS2 mutations (A through D), patients with a single NPHS2 mutations and/or sequence variant R229Q (E through G), and patients without NPHS2 variants (H).

  • b Group A includes 14 individuals from 11 families with a single R138Q mutation accompanying the truncating mutation. The total number of families/individuals with R138Q mutations is 42/5.

  • c Age of onset for both groups A and B was significantly lower than for all other groups (P < 0.01).