Table 3 Summary of clinical and genetic features of reported patients with NUP variants
Gene | F/M | No of cases | Age of onset (years) (Min-Max) | Clinical manifestations | Renal biospy (%) | ESRD at last follow-up (n/%) | Age at ESRD (years) (Min-Max) | Extra renal | Variant |
|---|---|---|---|---|---|---|---|---|---|
12/12 | 24 | 3.95 (0.58-9) | SRNS | FSGS(75%), MCD(4.2%), IFTA(8.3%), NA(12.5%) | 22/91.7% | 5.0 (0.83-11) | ASD, HF, MGS, erythrocytosis | c.575A>G, c.727A>T, c.1162C>T, c.1298delA, c.1319T>C, c.1326delG, c.1423G> A, c.1473T > G, c.1537+1G>A, c.1538-6A > G, c.1573C>T, c.1605C>G, c.1655A>G, c.1732C>T, c.1772G>T, c.1886A>G, c.1909A>G, c.1916T>C, c.2084T > C, c.2137-18G>A, c.2141T>C, c.2267T > C | |
10/10 | 20 | 3 (2-14) | SRNS | FSGS(80%), DMS(5%), MCD(5%), NA(10%) | 17/85% | 6.79 (4-13) | MC, ID, SS, DD, FD, DCM, HTN | c.303G>A, c.469G>T, c.627_663dup37, c.969+1G>A, c.1021dupG, c.1079_1083del, c.1735-3T>G, c.2071C>T, c.2129_2131delAAG, c.2492A>C, c.2666A>G | |
2/1 | 3 | 7 (7-16) | SRNS | FSGS(66.7%), NA(33.3%) | 1/25% | 15 | UD, ID | c.2407G>A, c.2728C>T, c.3517C>T | |
NUP85 [25] | 2/2 | 4 | 7.5 (4-11) | SRNS | FSGS(75%), NA(25%) | 3/75% | 10 (7-12) | SS, ID, GHD | c.405+1G>A, c.1430C>T, c.1741G>C, c.1933C>T |
NA | 8 | 3.37 (0.92-10) | proteinuria | FSGS(25%), NA(75%) | 8/100% | 6 (1.83-20) | ID, MC, GD, HI, Epilepsy, GAMOS | c.182+387T>G, c.691C>G, c.2898G>C, c.2922T>G, c.3164T>C, c.3335-11T>A. | |
NUP205 [16] | 1/0 | 1 | 3 | SRNS | FSGS(100%) | 1/100% | 7 | No | c.5984T>C |