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cge12273-sup-0001-FigureS1.docxWord 2007 document1223KFig. S1. Detection of patients with bi-allelic SLC26A4 mutations. (a) Five hot-spot areas (p.H723R, c.919-2A>G, p.T410M, p.L676Q, and p.T721M) or the whole exon of SLC26A4 were sequenced in patients with bilateral enlarged vestibular aqueduct (EVA). Bi-allelic SLC26A4 mutations were detected in 111 patients. (b) Distribution of genotypes in 100 unrelated patients with bi-allelic SLC26A4 mutations.
cge12273-sup-0002-FigureS2.docxWord 2007 document790KFig. S2. mRNA expression level of pCMV- wild-type and mutant pendrins. All groups had 1 µg plasmid transfection for 1 day. Quantitative polymerase chain reaction (qPCR) results show that there is no difference in SLC26A4 transcript expression level between wild-type and mutant pendrin groups (p = 0.69, n = 5). Relative ratio of mRNA expression compared with wild-type was 1.07 ± 0.11, 0.97 ± 0.09 in p.H723R and p.T410M, respectively.
cge12273-sup-0003-FigureS3.docxWord 2007 document937KFig. S3. In silico predictions of cryptic splicing in c.919-2A>G of SLC26A4. c919-2A>G mutation results in a leaky intron 8 acceptor splice site, with Ri reduced from 12.1 to 3.9 bits. Despite the decreased Ri value, it is yet probable that normal splicing mRNA can be produced in part. Additionally, this mutation creates a new cryptic splice site at the mutant G of intron 8, with Ri value increased from −4.5 to 3.1 bits. This predicts an outcome of a single G insertion into the beginning of exon 8, which in turns leads to a premature stop codon within exon 8 due to frameshift.
cge12273-sup-0004-TableS1.docxWord 2007 document17KTable S1. References about the pathogenicities of previously reported SLC26A4 mutations.
cge12273-sup-0005-TableS2.docxWord 2007 document16KTable S2. Primers used for the amplification and sequencing of SLC26A4gene.
cge12273-sup-0006-TableS3.docxWord 2007 document15KTable S3. Computational analysis of individual information contents (Ri) in c.919-2A>G of SLC26A4. By substitution of c.919-2A>G, natural splice acceptor site becomes leaky and new cryptic splice site occurs dominantly at the mutated G next to the last nucleotide of intron 8 of SLC26A4.
cge12273-sup-0007-AppendixS1.docxWord 2007 document23KAppendix S1. Supplementary methods.

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