TABLE 1

Frequency of Disease-Causing Mutations in NPHS1, NPHS2, LAMB2, and WT1in 80 Families With NSFL

Age of OnsetNo. of FamiliesMutationsNo Mutations, n (%)
Total, n (%)NPHS1, n (%)NPHS2, n (%)WT1, n (%)LAMB2, n (%)
First year of life (CNS + INS)
    All8053 (66.3)18 (22.5)30 (37.5)3 (3.8)2 (2.5)27 (33.7)
    CEU5743 (75.5)12 (21.0)27 (47.4)3 (5.3)1 (1.8)14 (24.5)
    Turkish2310 (43.5)6 (26.1)3 (13.1)0 (0.0)1 (4.3)13 (56.5)
CNS
    All4639 (84.8)18 (39.1)18 (39.1)1 (2.2)2 (4.4)7 (15.2)
    CEU3532 (91.4)12 (34.3)18 (51.4)1 (2.85)1 (2.85)3 (8.6)
    Turkish117 (63.6)6 (54.5)0 (0.0)0 (0.0)1 (9.1)4 (36.4)
INS
    All3415 (44.1)0 (0.0)12 (35.3)2 (5.9)1 (2.9)19 (58.9)
    CEU2212 (54.5)0 (0.0)9 (40.9)2 (9.0)1 (4.5)10 (45.5)
    Turkish123 (25.0)0 (0.0)3 (25.0)0 (0.0)0 (0.0)9 (75.0)
  • CEU indicates central European.