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
|
- 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.