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Table 1 Phenotype and genotype of SLC26A4 gene related hearing impairment in Inner mongilia

From: Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Patient number Age Genotype Phenotype
   Allele 1 Allele 2 CT Age of onset Diameter (mm) PTA (L) (dB) PTA (R) (dB) Thyroid hormone US scan Of thyroid
   Nucleotide Change amino acid change category nucleotide change amino acid change category        
1 17 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic aEVA 0.7 3.28 82. 93 normal normal
2 17 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 2 3.33 103 106 normal normal
3 9 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 2.5 2.73 93 95 Total T3 slightly elevated normal
4 16 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 0 2.73 97 97 normal normal
5 10 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 1 3.64 76 93 normal normal
6 14 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 2 2.73 96 83 normal normal
7 10 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 1 2.0 88 95 normal normal
8 8 IVS7-2 aberrant splicing pathogenic IVS7-2 aberrant splicing pathogenic EVA 2 1.64 101 95 normal normal
9 19 IVS7-2 aberrant splicing pathogenic 230A>T K77I pathogenic EVA 4 2.22 71 55 normal normal
10 16 IVS7-2 aberrant splicing pathogenic 1229C>T bT410M pathogenic EVA 3 4.55 78 77 normal normal
11 14 IVS7-2 aberrant splicing pathogenic 1975G>C bV659L pathogenic EVA 3 4.19 95 95 normal normal
12 13 IVS7-2 aberrant splicing pathogenic 2168A>G H723R pathogenic EVA 3.5 4.55 96 85 normal normal
13 13 2168A>G H723R pathogenic 109G>T E37X, nonsense mutation pathogenic EVA 0 2.89 90 87 normal Cystoid change
14 19 2168A>G H723R pathogenic 1229C>T bT410M pathogenic EVA 1.5 2.44 107 102 normal normal
15 17 2168A>G H723R pathogenic 2167C>G H723D Unclassified variant EVA 0.25 5.46 85 100 normal normal
16 14 1173C>A S391R pathogenic 1229C>T bT410M pathogenic EVA 0.1 3.33 95 90 normal normal
17 10 1124A>G Y375C Unclassified variant 1409G>A R470H Unclassified variant Vestibular and cochlear malformation 0.1   aNA NA NA NA
18 19 1472T>C I491T Unclassified variant     EVA and Mondini 0.6 4.44 100 100 NA NA
19 16 IVS7-2 aberrant splicing pathogenic     EVA 2 5.46 93 92 Total T3 slightly elevated normal
20 10 IVS7-2 aberrant splicing pathogenic     EVA 2 2.66 76 77 normal normal
21 17 IVS7-2 aberrant splicing pathogenic 1905G>A E635E Silent variant aND 1   84 107 NA NA
22 19 1174A>T N392Y pathogenic     ND 0   100 100 NA NA
23 16 IVS7-2 aberrant splicing pathogenic     anl 1   110 102 NA NA
24 24 IVS7-2 aberrant splicing pathogenic     nl 1.1   100 100 NA NA
25 19 1790T>C L597S Unclassified variant     nl 1.2   100 100 NA NA
26 17 1975G>C bV659L pathogenic     nl 0   98 100 normal normal
27 15 757A>G I253V Unclassified variant     nl 1   110 108 NA NA
28 17 200C>G T67S Unclassified variant     nl 1.3   95 100 normal normal
29 13 IVS12-6 insT Intron insertion Unclassified variant     nl 1   97 100 NA NA
30 16 225C>G L75L Silent variant     ND 0   110 103 NA NA
31 20 678T>C A226A Silent variant     nl 1   105 105 NA NA
32 18 1905G>A E635E Silent variant     nl 0.7   110 110 normal normal
  1. Novel mutations are in bold and italic. nl = normal, EVA = enlarged vestibular aqueduct, ND = not determined, NA = not available, CT = computerized tomography, PTA(L) or (R) = pure tone average(left) or (R), IVS7 = intravening sequence 7 (intron 7), IVS12 = intravening sequence 12 (intron 12), Diameter = Diameter at the midpoint between the common crus and the external aperture.
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Journal of Translational Medicine

ISSN: 1479-5876

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