Table 3 Distribution of SLC26A4 genotypes in patients with different CT scan phenotype

Isolated MD

1

c.919-2 A>G[21]

aberrant splicing

-

-

(1-28)

2-28

-

-

-

-

IEM

29

c.919-2 A>G

aberrant splicing

-

-

(29-44)

30

1286C>A (this study)

A429E

-

-

31-44

-

-

-

-

EVA

45

c.917insG(6)

Frameshift

-

-

(45-94)

46-57

c.919-2 A>G

aberrant splicing

c.919-2 A>G

aberrant splicing

58

c.1226G>A[22]

R409H

c.1226G>A

R409H

59

c.919-2 A>G

aberrant splicing

c.1520delT(this study)

Frameshift

60

c.919-2 A>G

aberrant splicing

c.1343C>A[23]

S448*

61

c.1174A>T[24]

N392Y

c.1975G>C[25]

V659L

62-65

c.919-2 A>G

aberrant splicing

c.2168A>G[21]

H723R

66

c.1229C>T[26]

T410M

c.1079C>T[27]

A360V

67

c.2027T>A[23]

L676Q

c.ivs15+5G>A[26]

aberrant splicing

68,69

c.919-2 A>G

aberrant splicing

c.1229C>T

T410M

70

c.919-2 A>G

aberrant splicing

c.1829C>A[21]

S610*

71,72

c.919-2 A>G

aberrant splicing

c.1343C>T[23]

S448L

73

c.1229C>T

T410M

c.1594AG>T (this study)

SF532, 545*

74,75

c.919-2 A>G

aberrant splicing

c.1975G>C

V659L

76,77

c.919-2 A>G

aberrant splicing

c.946G>T(6)

G316X

78

c.919-2 A>G

aberrant splicing

c.ivs9+1G>A (this study)

aberrant splicing

79,80

c.919-2 A>G

aberrant splicing

c.1586T>G[23]

I529S

81

c.2168A>G

H723R

-

-

82

c.2168A>G

H723R

c.2168A>G

H723R

83

-

-

-

-

84

c.919-2 A>G

aberrant splicing

c.281C>T[23]

T94I

85

c.919-2 A>G

aberrant splicing

-

-

86

c.919-2 A>G

aberrant splicing

c.1318A>T[23]

K440*

87

c.919-2 A>G

aberrant splicing

c.563T>C(this study)

I188T

88

c.919-2 A>G

aberrant splicing

c.496delA (this study)

Frameshift

89

c.919-2 A>G

aberrant splicing

c.1318A>T

K440*

90

c.812A>G[23]

D271G

c.1225C>T (this study)

R409C

91

c.919-2 A>G

aberrant splicing

c.1548insC[26]

Frameshift

92

c.919-2 A>G

aberrant splicing

c.1173C>A (this study)

S391R

93

c.919-2 A>G

aberrant splicing

c.1174A>T

N392Y

94

c.2168A>G

H723R

c.2T>C[16]

M1T

EVA with MD

95

-

-

-

-

(95-140)

96-99

c.919-2 A>G

aberrant splicing

c.2168A>G

H723R

100-102

c.919-2 A>G

aberrant splicing

c.589G>A[23]

G197R

103

c.2168A>G

H723R

c.1594AG>T

SF532, 545*

104-115

c.919-2 A>G

aberrant splicing

c.919-2 A>G

aberrant splicing

116

c.919-2 A>G

aberrant splicing

c.1238A>G[28]

Q413R

117

c.919-2 A>G

aberrant splicing

c.414delT (this study)

Frameshift

118

c.1229C>T

T410M

c.1343C>A

S448*

119

c.2168A>G

H723R

c.754T>C[26]

S252P

120,121

c.919-2 A>G

aberrant splicing

c.ivs13+9C>T[29]

aberrant splicing

122,123

c.919-2 A>G

aberrant splicing

c.1229C>T

T410M

124

c.1174A>T

N392Y

c.2027T>A

L676Q

125-127

c.919-2 A>G

aberrant splicing

c.1975G>C

V659L

128

c.2168A>G

H723R

c.1079C>T

A360V

129,130

c.919-2 A>G

aberrant splicing

c.2027T>A

L676Q

131

c.919-2 A>G

aberrant splicing

c.1340delA(this study)

Frameshift

132

c.1174A>T

N392Y

-

-

133

c.919-2 A>G

aberrant splicing

c.218delA(this study)

Frameshift

134

c.2168A>G

H723R

c.2086C>T(this study)

Q696*

135

c.ivs15+5G>A

aberrant splicing

c.1520delT

Frameshift

136,137

c.919-2 A>G

aberrant splicing

c.1226G>A

R409H

138,139

c.919-2 A>G

aberrant splicing

-

-

140

c.919-2 A>G

aberrant splicing

c.1991C>T(this study)

A664V

140

c.2168A>G

H723R

c.439A>G[21]

M147V

140

c.919-2 A>G

aberrant splicing

c.1594A>C[23]

S532R

140

c.919-2 A>G

aberrant splicing

c.ivs15+5G>A

aberrant splicing

140

c.1174A>T

N392Y

c.1174A>T

N392Y