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

From: Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

CT phenotype

Patient number

Genotype of SLC26A4

  

allele 1

allele 2

  

nucleotide change

amino acid change

nucleotide change

amino acid change

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

  1. Isolated MD group: Patient 1 had only one mutation and patient 2-28 had no mutation in SLC26A4. IEM group: Patient 29, 30 had one mutation and patient 31-44 had no mutation in SLC26A4. EVA group: Most patients had bi-allelic mutations except Patient 45, 81, 85 had one mutation and patient 83 had no mutation in SLC26A4. EVA with MD group: Most patients had bi-allelic mutations except Patient 132, 138, 139 had one mutation and patient 95 had no mutation.