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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.
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Journal of Translational Medicine

ISSN: 1479-5876

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