Supplementary data

Supplementary Table1: Genestargeted by next-generation sequencing analysis

No. / Gene / Disease / No. / Gene / Disease
1 / SLC12A1 / Type 1 Bartter / 51 / COL4A4 / Alport syndrome
2 / KCNJ1 / Type 2 Bartter / 52 / COL4A5 / Alport syndrome
3 / CLCNKB / Type 3 Bartter / 53 / GLA / Fabrydisease
4 / BSND / Type 4aBartter / 54 / UMOD / MCKD, ADTKD
5 / CLCNKA / Type 4bBartter / 55 / MUC1 / MCKD, ADTKD
6 / SLC12A3 / Gitelman / 56 / SEC61A1 / Autosomal-dominant tubulo-interstitial and glomerulocystickidney disease with anemia
7 / CASR / Hypocalcemia / 57 / REN / ADTKD
8 / MAGED2 / Type 5 Bartter / 58 / PKD1 / ADPKD
9 / CFTR / Cystic fibrosis / 59 / PKD2 / ADPKD
10 / CLCN5 / Dent-1 / 60 / GANAB / ADPKD
11 / OCRL / Dent-2 / 61 / EYA1 / BOR
12 / SLC26A3 / Congenital chloride diarrhea / 62 / SIX2 / BOR
13 / KCNJ10 / EASTsyndrome / 63 / CD2AP / FSGS
14 / CLDN16 / Hypomagnesemia / 64 / NPHS1 / FSGS/CNS
15 / CLDN19 / Hypomagnesemia / 65 / NPHS2 / FSGS/CNS
16 / FXYD2 / Hypomagnesemia / 66 / PLCE1 (NPHS3) / FSGS/CNS
17 / EGF / Hypomagnesemia / 67 / SMARCAL1 / FSGS
18 / TRPM6 / Hypomagnesemia / 68 / LAMB2 / FSGS
19 / KCNA1 / Hypomagnesemia / 69 / SCARB2 / FSGS
20 / CNNM2 / Hypomagnesemia / 70 / COQ2 / FSGS
21 / HNF1B / Hypomagnesemia / 71 / COQ6 / FSGS
22 / SLC41A3 / Hypomagnesemia / 72 / ITGA3 / FSGS
23 / CFH / aHUS / 73 / ITGB4 / FSGS
24 / CFI / aHUS / 74 / GLEPP1(PTPRO) / FSGS
25 / MCP (CD46) / aHUS / 75 / MYO1E / FSGS
26 / C3 / aHUS / 76 / ARHGDIA / FSGS
27 / CFB / aHUS / 77 / ADCK4 / FSGS
28 / DGKE / aHUS FSGS / 78 / TTC21B / FSGS
29 / THBD / aHUS / 79 / NUP93 / FSGS
30 / ADAMTS13 / TTP / 80 / NUP107 / FSGS
31 / FN1 / Fibronectin / 81 / NUP205 / FSGS
32 / SLC4A1 / Distal RTA / 82 / CRB2 / FSGS
33 / ATP6V0A4 / Distal RTA / 83 / CUBN / FSGS
34 / ATP6V1B1 / Distal RTA / 84 / EMP2 / FSGS
35 / SLC4A4 / Proximal RTA / 85 / FAT1 / FSGS
36 / CA2 / Mixed RTA / 86 / KANK1 / FSGS
37 / EHHADH / Fanconi syndrome (OMIM#615605) / 87 / KANK2 / FSGS
40 / SLC34A1 / Fanconi syndrome (OMIM #613388) / 88 / KANK4 / FSGS
41 / CTNS / Cystinemia / 89 / PDSS2 / FSGS
42 / NR3C2 / PHA type 1 / 90 / PTPRO / FSGS
43 / SCNN1A / PHA type 1 / 91 / WDR73 / FSGS
44 / SCNN1B / PHA type 1 / 92 / XPO5 / FSGS
45 / SCNN1G / PHA type 1 / 93 / ACTN4 / FSGS (AD)
46 / KLHL3 / PHA type 1 / 94 / ANLN / FSGS (AD)
47 / CUL3 / PHA type 1 / 95 / ARHGAP24 / FSGS (AD)
48 / WNK1 / PHA type 2 / 96 / INF2 / FSGS (AD)
49 / WNK4 / PHA type 2 / 97 / LMX1B / FSGS (AD)
50 / COL4A3 / Alport syndrome / 98 / MYH9 / MYH9 nephropathy (AD)
99 / PAX2 / FSGS (AD)
100 / TRPC6 / FSGS (AD)
101 / WT1 / FSGS/CNS
102 / WDR73 / FSGS, Galloway-Mowat
103 / MAGI2 / FSGS

Supplementary Table 2：Targeted genecoverages

Gene / Regions / Coverage / High Coverage
(≧90%) / Low Coverage
(<90%)
EYA1 / 18 / 100% / 18 / 0
COL4A5 / 55 / 99.21% / 54 / 1
CLCNKB / 20 / 99.4% / 20 / 1
HNF1B / 9 / 100% / 9 / 0
PAX2 / 13 / 100% / 13 / 0

Supplementary Fig.1

Patient 3 Father Mother

Fig. 1.Sanger sequence chromatograms of CLCNKB in patient 3. A known nonsense variant (c.1830 G>A, p.Trp610*) was detected in patient 3 and his mother.

Supplementary Fig. 2

I.

1 2

I I. 1 2 3

Fig.2. Pedigree of Case 4.

The index subject (I.2) is indicated with an arrow.

Patient 4 had low serum Mg and K level, diabetes, kidney cysts and primary sclerosing cholangitis.

Filled symbols represent symptomatic family members.

I I.1 is Patient4’s first daughter.

Patient 4’s first daughterhad low serum Mg and K level, diabetes, right-side polycystic kidney, left-side hypoplastic kidney, mental retardation and gallbladder adenomyomatosis.

I I.2 is Patient 4’s second daughter.

Patient 4’s second daughterhad low serum Mg and K level, mental retardation and liver disease.

I I.3 is Patient 4’sson.

Patient 4’s son had low serum Mg and K level, mental retardation and liver disease.