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. 2020 Jan 14;10:270. doi: 10.1038/s41598-019-57149-5

Table 1.

Clinical features of 69 Japanese patients with proteinuria for whom disease-causing mutations were identified.

Patient Gene Sex Age at onset(y) Category* ESRD(y) Histopathologic diagnosis Family history** Extra-renal symptom Age at gene analysis(y) eGFR
(ml/min/1.73 m2)
Neph7

WT1

(NM_024426.4)

 F 0.33 2 0.5 DMS — — 0.75 5
Neph15 WT1 F 10 4 — MGA — — 16 114.4
Neph33 WT1 F 3 4 — MGA — — 9 113.5
Neph48 WT1 M 0.5 4 — FSGS — micropenis, cryptorchidism 2 75.82
Neph52 WT1 F 6 3 — FSGS — — 9 84.8
Neph90 WT1 M 3 3 12 FSGS — — 12 11.9
Neph92 WT1 F 0 1 0 — — — 0 14
Neph95 WT1 M 3 4 11 FSGS — — 30 33.9
Neph107 WT1 F 0.17 2 0.17 — — — 0.17 10.24
Neph132 WT1 F 0.5 2 0.5 sclerosis — — 1 3
Neph136 WT1 F 6 4 — MGA — — 17 83.4
Neph137 WT1 F 2 3 — Mesangial proliferative glomerulonephritis — — 5 100
Neph154 WT1 M 3 3 — FSGS — cryptorchidism,hypospadias 14 21
Neph171 WT1 M 9 3 — FSGS — — 29 25.8
Neph185 WT1 M 0.5 2 2 DMS — — 20 71.1
Neph197 WT1 F 3 4 7 FSGS — — 7 12.5
Neph208 WT1 F 0.42 2 0.42 — — — 0.5 18.76
Neph27

NPHS1

(NM_004646.3)

 M 0 1 — — — — 0.08 34.1
Neph69 NPHS1 M 0.08 1 — — — — 0.67 32.1
Neph91 NPHS1 F 8 3 — MGA — — 20 244.3
Neph104 NPHS1 F 0 1 — — 1 — 0.08 —
Neph106 NPHS1 F 0 1 — — — — 0.17 55.5
Neph113 NPHS1 M 6 3 — MGA — — 32 165.4
Neph192 NPHS1 M 0.75 3 — MGA — — 2 92.3
Neph203 NPHS1 F 7 3 — C1q nephropathy 1 — 10 195
Neph59

INF2

(NM_022489.3)

 F 13 4 — Focal glomerular obsolescent 2 — 25 113
Neph76 INF2 M 10 4 25 FSGS 2 — 17 7.2
Neph134 INF2 M 9 4 — FSGS — — 15 96.6
Neph155 INF2 M 11 4 14 FSGS — Charcot-Marie-Tooth disease 15 8.4
Neph177 INF2 M 30 4 — FSGS 2 — 32 63
Neph198 INF2 F 13 4 — MGA — — 16 115.2
Neph202 INF2 M 31 4 — FSGS 2 — 39 12.6
Neph227 INF2 M 7 3 13 FSGS — — 22 53.2
Neph5

TRPC6

(NM_004621.5)

 F 3 4 6 FSGS — — 14 92.4
Neph24 TRPC6 F 4 3 4 FSGS — — 4 91.6
Neph39 TRPC6 F 3 3 7 C1q nephropathy — — 7 8.16
Neph139 TRPC6 F 2 4 — FSGS — — 2 94.8
Neph149 TRPC6 M 7 3 — MGA — — 8 95.17
Neph176 TRPC6 M 14 4 — FSGS 2 — 14 140.13
Neph234 TRPC6 F 7 4 — FSGS 2 — 7 119.8
Neph4

LAMB2

(NM_002292.3)

 M 0.33 2 — FSGS — — 4 121
Neph23 LAMB2 F 0 1 0.25 Diffuse glomerular obsolescence — — 1 ESRD
Neph58 LAMB2 M 0 1 0 — — microcoria 0 4.1
Neph87 LAMB2 M 0.17 1 0.5 DMS — retinal detachment 10 68.9
Neph89 LAMB2 M 2 3 — sclerosis — — 2 93.8
Neph133 LAMB2 F 0 1 0.08 — — choroiditis, chorioretinal atrophy 6 89.9
Neph36

ADCK4

(NM_024876.3)

 F 6 4 — FSGS — — 8 89.7
Neph56 ADCK4 F 3 4 — FSGS — — 4 111.2
Neph160 ADCK4 M 3 4 — FSGS — — 5 60.8
Neph225 ADCK4 F 9 4 — FSGS 1,2 — 11 90.9
Neph19

NUP107

(NM_020401.2)

 M 1.67 3 2.3 FSGS — — 5 6.2
Neph66 NUP107 F 3 4 — — — — 3 129.4
Neph147 NUP107 M 7 4 — FSGS — — 8 105.5
Neph68

LMX1B

(NM_002316.3)

 M 3 3 — — — microcephaly 5 167.61
Npeh77 LMX1B F 3 3 — FSGS 2 — 19 109
Neph37

ACTN4

(NM_004924.4)

 M 6 4 13 FSGS — — 12 66.7
Neph146 ACTN4 M 8 3 — FSGS — — 11 126
Neph129

PAX2

(NM_003987.3)

 M 3 4 — FSGS 1 — 10 106.3
Neph230 PAX2 M 8 4 — FSGS — — 8 47.3
Neph178

COL4A5

(NM_000495.4)

 F 8 3 — FSGS 2 — 54 20.6
Neph204 COL4A5 F 1 4 — non—IgA nephropathy 2 — 17 93.3
Neph97

COQ6

(NM_182476.2)

 M 0.75 2 — — — — 0.92 83
Neph79

FAT1

(NM_005245.3)

 M 3 4 — MGA — — 5 141.8
Neph189

PLCE1

(NM_016341.3)

 M 1 3 12 FSGS 1 — 21 70.16
Neph10

SMARCAL1

(NM_014140.3)

 M 7 3 — FSGS — — 8 64.1
Neph143

TTC21B

(NM_024753.4)

 M 3 4 — FSGS — situs inversus 4 57.1
Neph216

MYH9

(NM_002473.5)

 M 3 4 — FSGS — — 8 100.1
Neph224

CUBN

(NM_001081.3)

 M 3 4 — MGA — — 3 112
Neph236

LAMA5

(NM_005560)

 M 0.25 1 1 — 2 — 13 36.4

*1: Congenital nephrotic syndrome, 2: Infantile nephrotic syndrome, 3: Steroid-resistant nephrotic syndrome, 4: Focal segmental glomerular sclerosis or asymptomatic proteinuria.

**1: positive family history of proteinuria, 2: positive family history of renal failure.

Abbreviations: DMS, diffuse mesangial sclerosis; ESRD, end-stage renal disease; FSGS, focal segmental glomerular sclerosis; MGA, minor glomerular abnormality.