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Table 4 Summary of all SLC22A12 gene mutations and clinical data for RHUC patients in varied races (mainly from case reports)

From: Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Races

Nucleotide changea

Amino acid changeb

No. of patients reported

No. of urolithiasis, AKI and hematuria

References

Japan

G774A/G774A

W258X/W258X

68

5, 25, 0

[2, 4,5,6,7, 32, 36,37,38,39,40,41,42,43,44]

G774A/+

W258X/+

15

1, 1, 0

[4, 6, 7, 29, 37, 44, 45]

G774A/G269A

W258X/R90H

13

0, 0, 0

[4, 5, 7, 29, 32]

G774A/1639-1643delGTCCT

W258X/frameshift

4

0, 0, 0

[4, 6, 7]

G269A/G269A

R90H/R90H

1

0, 0, 0

[7]

G774A/G412A

W258X/V138 M

3

2, 0, 0

[4, 7]

G774A/C650T

W258X/T217 M

2

0, 0, 0

[4, 37]

G774A/C889T

W258X/Q297X

2

0, 1, 0

[4, 32]

G774A/IVS2 + 1G > A

W258X/Frameshift

2

0, 0, 0

[4, 46]

G774A/A1145T

W258X/Q382L

2

0, 0, 0

[4, 6]

G774A/G1082 T

W258X/G361 V

2

0, 1, 0

[7]

G269A/C889T

R90H/Q297X

1

0, 1, 0

[31]

G269A/C1429A

R90H/R477S

1

0, 0, 0

[7]

C650T/C650T

T217 M/T217 M

1

–

[2]

G894 T/G894 T

E298D/E298D

1

–

[2]

C889T/IVS2 + 1G > A

Q297X/Frameshift

1

0, 0, 0

[47]

G774A/G490A

W258X/G164S

1

0, 0, 0

[4]

T1289C/+

M430 T/+

1

0, 0, 0

[4]

937-999del (63 bp)

D313-P333del/+

1

0, 0, 0

[5]

G774A/T1253G

W258X/L418R

1

0, 0, 0

[6]

G774A/G371 T

W258X/R124L

1

0, 0, 0

[7]

Korea

G774A/G774A

W258X/W258X

3

1, 2, 0

[28, 48, 49]

G774A/+

W258X/+

2

0, 0, 1

[28]

G774A/G1430A

W258X/R477H

1

0, 0, 1

[28]

G269A /+

R90H/+

1

1, 0, 0

[28]

China

G269A/G269A

R90H/R90H

2

0, 1, 0

[30]

151delG/+

A51fsX64/+

2

0, 1, 0

[11]

C233T/A1145T

P78L/Q382L

1

0, 0, 1

[8]

C650T/+,

SLC2A9 mut

T217 M/+,

SLC2A9 mut

1

0, 1, 0

[11]

C650T/C1546A

T217 M/P516T, SLC2A9 mut

1

0, 0, 0

[11]

G269A/1289_1290insGG

R90H/M430fsX466

1

0, 0, 0

present study

Czech

1245_1253del/1245_1253del

L415_G417del/ L415_G417del

7

–

[12, 50]

1245_1253del/C1400T

L415_G417del/T467 M

4

0, 1, 0

[12, 50]

C1400T/C1400T

T467 M/T467 M

2

0, 0, 0

[50]

G1096C/G1430A

G366R/R477H

2

0, 0, 0

[51]

Iraqi jews

C1216T/C1216T

R406C/R406C

2

0, 0, 0

[52]

C1216T/+

R406C/+

2

0, 0, 0

[52]

C1216T/+; G1330A/G1330A

R406C/+; G444R/G444R

2

1, 0, 0

[52]

Israel–Arab

+/+

+/+

4

0, 2, 0

[25]

Italy

+/+

+/+

1

0, 1, 0

[24]

Macedonian and British

C1300T/+

R434C/+

3

1, 0, 0

[9]

G1301A/+

R434H/+

2

0, 0, 0

[9]

C1039A/+

R347S/+

1

0, 0, 1

[9]

G1162A/+

V388 M/+

1

1, 0, 0

[9]

T224C/+

I75T/+

1

1, 0, 0

[9]

African Americans

G193 T

G65 W

–

–

[10]

  1. + indicates the wild-type allele. Note: G65 W was identified to be associated with lower SUA level by GWAS, not case reports
  2. aaccording to coding sequence
  3. baccording to amino acid
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