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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