Table 1.
Distribution of causative mutations detected in 18 of 34 sequenced genes for AS, aHUS, TTP and SRNS in 56 families presenting with proteinuria and hematuria before age 25 years
| Gene symbol (n = 34) | Number of families with molecular genetic diagnosis (n = 51) | Percentage of total families (=100%) |
|---|---|---|
| Alport syndrome | ||
| COL4A5 | 10 | 2.76 |
| COL4A3 | 6 | 1.66 |
| COL4A4 | 1 | 0.28 |
| aHUS | ||
| CFHR5 | 3 | 0.84 |
| CFH | 1 | 0.28 |
| CFI | 1 | 0.28 |
| C3 | 0 | 0 |
| CD46 | 0 | 0 |
| DGKE | 0 | 0 |
| THBD | 0 | 0 |
| TTP | ||
| ADAMTS13 | 0 | 0 |
| Nephrotic syndrome | ||
| NPHS1 | 5 | 1.38 |
| NPHS2 | 5 | 1.38 |
| LMX1B | 4 | 1.10 |
| PLCE1 | 4 | 1.10 |
| LAMB2 | 3 | 0.82 |
| SMARCAL1 | 2 | 0.56 |
| ACTN4 | 1 | 0.28 |
| ARHGDIA | 1 | 0.28 |
| COQ2 | 1 | 0.28 |
| CUBN | 1 | 0.28 |
| INF2 | 1 | 0.28 |
| TRPC6 | 1 | 0.28 |
| ADCK4 | 0 | 0 |
| ARHGAP24 | 0 | 0 |
| CD2AP | 0 | 0 |
| COQ6 | 0 | 0 |
| CRB2 | 0 | 0 |
| ITGA3 | 0 | 0 |
| ITGB4 | 0 | 0 |
| MYO1E | 0 | 0 |
| PDSS2 | 0 | 0 |
| PTPRO | 0 | 0 |
| WT1 | 0 | 0 |
| Total | 51 | 14.1 |