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Table 2 SLC26A4 mutation spectrum among different populations

From: Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

 

aChinese

aChinese

aTaiwanese

aKorean

aJapanese

aFrench

aCaucasian European

aUS

aTotal number of patients

135 NSHI (20 EVA)

95 EVA

38 EVA

26 EVA

10 PS + 32 EVA

30 PS

100 EVA

31 PS & EVA

Total mutant alleles identified

43 (100)

177(100)

57 (100)

45 (100)

57 (100)

50(100)

64 (100)

32 (100)

% of SLC26A4 mutation in total

15.92

(43/270)

93.16

(177/190)

75

(57/76)

86.5

(45/52)

67.86

(57/84)

83.33

(50/60)

32(64/200)

51.61(32/62)

IVS7-2A>G

25 (62.5)

102(57.63)

48 (84.2)

9 (20)

2 (3.51)

   

T410M

3 (7.5)

4(2.26)

1 (1.75)

  

3 (6)

1(1.56)

 

K77I

1 (2.5)

1(0.56)

1 (1.75)

     

H723R

4 (10)

16(9.04)

1 (1.75)

18 (40)

33 (57.9)

   

H723D

1 (2.5)

       

S391R

1 (2.5)

     

1(1.56)

 

N392Y

1 (2.5)

5(2.82)

  

1 (1.75)

   

E37X

1 (2.5)

1(0.56)

      

I491T

1 (2.5)

       

Y375C

1 (2.5)

       

R470H

1 (2.5)

       

V659L

2(5)

1(0.56)

      

S448L

 

1(0.56)

1 (1.75)

     

T721M

  

1 (1.75)

1

3 (5.3)

1(2)

2(3.13)

 

A372V

  

2 (3.51)

 

4 (7)

   

A387V

 

1(0.56)

2 (3.51)

     

2111ins5

    

2 (3.51)

   

917delT

    

1 (1.75)

   

1652insT

    

1 (1.75)

   

IVS5-1G>A

    

1 (1.75)

   

IVS8+1G>A

    

1 (1.75)

2(4)

3(4.69)

2(6.25)

322delC

    

1 (1.75)

   

S610X

    

1 (1.75)

   

C565Y

    

1 (1.75)

   

K369E

    

1 (1.75)

   

S657N

    

1 (1.75)

   

S666F

    

1 (1.75)

   

P123S

    

1 (1.75)

   

M147V

 

2(1.13)

 

3 (6.67)

1 (1.75)

   

IVS9+3A>G

   

4 (8.89)

    

365insT

   

2 (4.44)

    

S28R

   

1 (2.22)

    

IVS4+4A>G

   

1 (2.22)

    

P142R

   

1 (2.22)

    

S166N

   

1 (2.22)

    

G497S

   

1 (2.22)

    

IVS14-1G>A

 

1(0.56)

 

1 (2.22)

    

IVS15+5G>A

 

5(2.82)

 

1 (2.22)

    

E625X

   

1 (2.22)

    

L676Q

 

6(3.39)

 

1 (2.22)

    

Y530H

     

7(14)

3(4.69)

1(3.13)

L445W

     

5(10)

4(6.25)

2(6.25)

IVS14+1G>A

 

1(0.56)

   

4(8)

  

G209V

     

4(8)

1(1.56)

2(6.25)

T416P

     

3(6)

  

L236P

       

2(6.25)

L597S

1 (2.5)

      

4(12.5)

P76L

 

1(0.56)

      

T94I

 

3(1.69)

      

P112S

 

1(0.56)

      

349delC

 

1(0.56)

      

387delC

 

1(0.56)

      

G197R

 

1(0.56)

      

G204V

 

1(0.56)

      

D271G

 

1(0.56)

      

916_917insG

 

2(1.13)

      

G316X

 

1(0.56)

      

N392S

 

1(0.56)

      

1181_1183delTCT

 

1(0.56)

      

R409H

 

3(1.69)

      

Q421P

 

1(0.56)

      

K440X

 

1(0.56)

      

Q446X

 

1(0.56)

      

S448X

 

1(0.56)

      

Q514X

 

1(0.56)

      

I529S

 

1(0.56)

      

I532R

 

2(1.13)

      

N558I

 

1(0.56)

      

D573Y

 

1(0.56)

      

1746delG

 

1(0.56)

      

R685I

 

1(0.56)

      

References

This study

(Wang et al. 2007)

(Wu et al. 2005)

(Park et al. 2004)

(Tsukamoto et al. 2003)

(Blons et al. 2004)

(Albert et al. 2006)

(Pryor et al. 2005)

  1. Numbers in the parentheses are the percentages of mutant alleles in total SLC26A4 mutant alleles identified.
  2. a All mutations found in Asian populations are listed, Only the mutations that occurred in at least 3 unrelated families of the European and US populations or the mutations that had occurred in other populations are listed to show the diversity of mutations and the lack of prevalent mutations.
  3. b total number of chromosome studied = number of patients × 2
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Journal of Translational Medicine

ISSN: 1479-5876

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