Table 1.
Clinical and mutation information for all 32 children with CNS
| Patient number | Origin | Age at onset | Gender | Renal biopsy | Treatment | Interval to ESRD2 | NPHS1 mutation3 |
|---|---|---|---|---|---|---|---|
| A1116 II-2 | Caucasian | 1 month | M | – | – | Wilms’ tumor, low grade proteinuria with one kidney | Ex10, c.1234G>T(h) = G412C; Ex24, c.3243_3250insG(h) = V1084fsX1095 |
| A1116 II-5 | Caucasian | 1 month | M | MCNS | Partial remission with steroid treatment | Stable renal function | Ex10, c.1234G>T(h) = G412C; Ex24, c.3243_3250insG(h) = V1084fsX1095 |
| A1149 | European | 3 months | F | DMS | – | – | – |
| A1180 | European | 1 month | M | FSGS | SRNS; partial remission on CSA | – | – |
| A1185 | Arabic | 3 months | M | DMS | – | – | Ex7, c.767C>T(h) = R256W |
| A1189 | Caucasian | 2 months | F | FSGS/DMS | – | – | – |
| A1193 | European | 2 months | M | – | – | – | Ex12, c.1555C>T(h) = P519S Ex19, c.2596C> T(h) = R866X |
| A1213 II-1 | Jewish | 2 months | M | – | – | – | – |
| A1213 II-3 | Jewish | 2 months | M | – | – | – | – |
| A1242 | Arabic | At birth | M | – | SRNS | – | – |
| A1357 II-1 | Turkish | At birth | F | DMS | – | 1.2 years | Ex24, c.3243_3250ins G(H) = V1084fsX1095 |
| A1357 II-2 | Turkish | 2 months | M | DMS | – | 2 years | Ex24, c.3243_3250ins G(H) = V1084fsX1095 |
| A1416 | Indian | At birth | M | – | – | Death of ESRD at 4 months of age | Ex9, c.1099C>T(H) = R367C |
| A14331 | Arabic | At birth | M | DMS | – | 1.4 years | Ex13, c.1707C> G(H) = S569R |
| A1436 | Central European | 2 months | F | FSGS | SRNS | 7 years | – |
| A15211 | Indian | 1 month | F | Cortical extramedullary haematopoiesis | – | – | Ex22, c.2944insA(H) = T982fsX1017 |
| A1537 | African American | At birth | F | MCNS | SRNS | 5.8 years | Ex2, c.139delG(h) = E46fsX127 |
| A1543 | Caucasian | 1 month | F | Finnish type | – | – | Ex6, c.603del8ins2(h) = Y205,P206,R207 = I205; Ex10, c.1306insAC(h) = N436fsX437 |
| A1613 | European | 1 month | M | Finnish type | – | – | – |
| A16141 | Turkish | 1 month | F | MCNS | – | Normal renal function 1.5 years after onset | Ex16, c.2126T>G(H) = V709G |
| A1641 | European | 1 month | M | – | – | Normal renal function 0.5 year after onset | Ex27, c.3478C>T(h) = R1160X; 275–1G>A(h) = splice site |
| A1659 | Indian | At birth | F | MCNS | SRNS | – | – |
| A1680 | Turkish | At birth | F | Finnish type | – | – | Ex19, c.2548del10(H) = A850fsX873 |
| A16871 | Pakistani | 1 month | F | Non-specific | – | – | Ex27, c.3478C>T(H) = R1160X |
| A18001 | Indian | 1 week | M | – | – | – | Ex6, c.603del8ins2(H) = Y205,P206,R207 = I205 |
| A1801 | European | 2 weeks | F | DMS | – | – | Ex13, c.1716C>G(h) = S572R; Ex27, c.3478C>T(h) = R1160X |
| A1803 | European | At birth | M | MCNS | CSA-no response | 5 years | – |
| A1809 | European | At birth | F | Secondary FSGS | – | – | – |
| A1831 | European | At birth | F | Finnish type | – | 3 years | Ex11, c.1379G>A(h) = R460Q; Ex20, c.2769del7(h) = N924fsX947 |
| A1889 | Caucasian | 1.5 months | F | FSGS then DMS | – | Death of ESRD at 3 weeks of age | – |
| A1893 | Hispanic | At birth | F | Finnish type | – | 1 month | Ex2, c.139delG(h) = E46fsX127; 3482–2A>G(h), = splice site |
| A19391 | Turkish | At birth | M | – | – | – | 2664–4del11(H) = splice site |
M = male; F = female; DMS = diffuse mesangial sclerosis; FSGS = focal segmental glomerulosclerosis; MCNS = minimal change nephrotic syndrome; SRNS = steroid resistant nephrotic syndrome; Ex = exon; H = homozygous; h = heterozygous; CSA = cyclosporin-A. 1= children are from consanguineous (first cousin) parents. 2ESRD is presented as time interval from onset of disease to development of ESRD. 3= all novel mutations were absent from at least 80 healthy control individuals. Novel mutations are printed in bold. Novel missense mutations were conserved through evolution at least down to Danio Rerio, except for mutation R256W, which is conserved down to Canis Familiaris. RefSeq NM_ 004646 was used as relevant wild-type gene sequence.