Table 3 Case reports of patients with EIAKI caused by SLC2A9 mutations

Dinour [11] 2010

M

46

0.2

 > 150

c.224 T > G

L75R

Israeli-Arab

homozygous

EIAKI

M

24

0.2

 > 150

c.224 T > G

L75R

Israeli-Arab

homozygous

EIAKI

M

19

0.1

 > 150

c.224.T > G

L75R

Israeli-Arab

homozygous

EIAKI

Shima [21] 2011

F

11

0.1

58.3

#/dupExonla-11

G207X/#

Japanese

compound heterozygous

EIAKI, PRES

Stiburkova [2] 2013

M

12

0.5

45.8

c.646G > A

G216R

Anglo-Saxon

homozygous

EIAKI

M

14

0.67

93

c.646G > A/c.968A > G

G216R/N333S

Anglo-Saxon

compound heterozygous

EIAKI

Shen [34] 2014

F

12.1

0.05

 > 150

g.68G > A

W23X

China

homozygous

EIAKI

Jeannin [6] 2014

M

24

0.1

 > 150

c.1138C > T/c.646G > A

R380W/G216R

Pakistani

compound heterozygous

EIAKI

Androvitsanea [35] 2015

M

15

0.2

 > 150

delExon8-12

#

Caucasian

homozygous

EIAKI

Mou [22] 2015

M

11

0.1

139.4

c.1215 + 1G > A

#

China

homozygous

EIAKI, PRES

Windpessl [9] 2016

M

16

0.1

 > 150

c.512G > A

R171H

Caucasian

homozygous

EIAKI

Zhou [36] 2016

M

32

0.08

74

c.68C > T/c.857C > T

W23X/W286X

China

compound heterozygous

EIAKI

Claverie-Martin [37] 2018

M

22

1.2

57

c.374C > T

T125M

Spanish

homozygous

EIAKI

M

12

 < 0.5

80

c.374C > T

T125M

Spanish

homozygous

EIAKI

Wang [32] 2019

M

35

0.3

 > 150

c.857G > A

W286X

China

homozygous

EIAKI

Wang [38] 2021

M

8

1.9

12.7

c.595-2_595-linsC

#

China

heterozygous

EIAKI

Maalouli [39] 2021

M

20

0.2

119

c.646G > A

G216R

Pakistani

homozygous

EIAKI

Kaynar [40] 2021

M

47

0.1/1.8/0.08

142

c.1419 + 2 T > G

#

Turkey

homozygous

EIAKI