Table 1. Phenotype associated with LMX1B mutation in two families with FSGS.
| Study ID | Gender | Age onset (yrs) | Proteinuria Y/N | Renal biopsy | Extra renal manifestations | Age at ESKD (yrs) | Transplant Y/N Recurrence Y/N |
|---|---|---|---|---|---|---|---|
| 35705: 1 | F | <18 | Yes | FSGS | No | 18 | Y/N |
| 35705: 101 | M | <22 | Yes | UNK | No | 22 | Y/N |
| 35705: 102 | F | <16 | Yes | UNK | Glaucoma | 16 | Y/N |
| 35705: 801 | M | 5 | Yes | FSGS | Autism | NA | N/NA |
| 35705: 802 | M | 3 | Yes | FSGS | Autism | NA | N/NA |
| 35705: 803 | F | 6 | Yes | NA | No | NA | N/NA |
| 35705: 805 | M | <14 | Yes | NA | No | NA | N/NA |
| 35705: 1000 | M | 18 | Yes | Memb | Glaucoma | 58 | Y/N |
| 34319: 1 | F | 12 | UNK | Familial nephropathy | No | 22 | N/NA |
| 34319: 100 | M | 4 | Yes | FGGS | No | NA | N/NA |
| 34319: 101 | F | 5 | Yes | UNK | No | N/NA | |
| 34319: 102 | M | 2 | Yes | Immune complex GN | No | 5 | Y/N |
| 34319: 8002 | F | 10 | Yes | C1q nephropathy | No | NA | N/NA |
F: Female, M: Male, UNK: Unknown, NA: Not applicable, Memb: Membranous nephropathy, FSGS: Focal segmental glomerulosclerosis, FGGS: Focal global glomerulosclerosis, GN: Glomerulonephritis, Y: Yes, N: No, YRS: Years.