These three authors contributed equally to this work.
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations
Version of Record online: 3 OCT 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 3, pages 270–275, September 2014
How to Cite
Lee, H.J., Jung, J., Shin, J.W., Song, M.H., Kim, S.H., Lee, J.-H., Lee, K.-A., Shin, S., Kim, U.-K., Bok, J., Lee, K.-Y., Choi, J.Y. and Park, H.J. (2014), Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clinical Genetics, 86: 270–275. doi: 10.1111/cge.12273
The authors declare no conflicts of interest.
- Issue online: 20 AUG 2014
- Version of Record online: 3 OCT 2013
- Accepted manuscript online: 5 SEP 2013 12:36PM EST
- Manuscript Revised: 3 SEP 2013
- Manuscript Accepted: 3 SEP 2013
- Manuscript Received: 4 JUL 2013
- National Research Foundation of Korea (NRF). Grant Numbers: 2011–0028066, 2012R1A1A1015761
|cge12273-sup-0001-FigureS1.docx||Word 2007 document||1223K||Fig. 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.docx||Word 2007 document||790K||Fig. 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.docx||Word 2007 document||937K||Fig. 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.docx||Word 2007 document||17K||Table S1. References about the pathogenicities of previously reported SLC26A4 mutations.|
|cge12273-sup-0005-TableS2.docx||Word 2007 document||16K||Table S2. Primers used for the amplification and sequencing of SLC26A4gene.|
|cge12273-sup-0006-TableS3.docx||Word 2007 document||15K||Table 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.docx||Word 2007 document||23K||Appendix S1. Supplementary methods.|
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