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cge12074-sup-0001-TableS1.docWord document136KTable S1. Genetic and clinical features of 73 probands with biallelic SLC26A4 mutation and hearing impairment.
cge12074-sup-0002-TableS2.docWord document61KTable S2. Genetic and clinical features of 11 probands with one SLC26A4 mutation identified.
cge12074-sup-0003-TableS3.docWord document75KTable S3. Clinical data of 25 probands with no SLC26A4 mutation identified.
cge12074-sup-0004-TableS4.docWord document56KTable S4. Chromosome 7q31 haplotypes linked to p.V138F.
cge12074-sup-0005-TableS5.docWord document56KTable S5. Chromosome 7q31 haplotypes linked to p.E29Q.
cge12074-sup-0006-TableS6.docWord document55KTable S6. Summary of clinical findings in 109 Pendred probands.
cge12074-sup-0007-TableS7.docWord document55KTable S7. List of all primers used in the study.
cge12074-sup-0008-AppendixS1.docWord document117KAppendix S1. Material, methods and results details.
cge12074-sup-0009-FigureS1.pdfPDF document74KFig. S1. (a) Multiple sequence alignments illustrating evolutionary conservation of pendrin amino acids p.Q383, p.G493, p.P525, p.S657, p.A725, and p.L729. (b) Representative sequence chromatograms for each of the identified SLC26A4 and SIX1 missense mutations. The arrows indicate the nucleotide changes of the heterozygous missense mutations.
cge12074-sup-0010-FigureS2.pdfPDF document98KFig. S2. Identification of a homozygous intragenic deletion in SLC26A4 (patient 5382-05 in Table S1). (a) Sequencing chromatogram of the exons 4–6 deletion junctions in SLC26A4 introns 3 and 6 (located in a L1PA4, family L1 repeat), respectively. The deletion removes a total of 13,558 bp, 53 bp more at the 5′ end and 549 bp less at the 3′ end, when compared to a deletion in a Spanish patient, who also had deletion of exons 4–6. This supports the idea that the genomic regions surrounding the breakpoints contain recombining elements. Coordinates numbering is based on the genomic sequence of SLC26A4 (NT_007933). (b) Confirmation of exons 4–6 deletion of SLC26A4 by MLPA analysis. The probe mix for SLC26A4 includes probes for the 21 SLC26A4 exons and 15 control probes (indicated by asterisks). The patient is homozygous for a deletion covering exons 4–6 in SLC26A4, as revealed by the missing peaks obtained from these three exons when compared to the control individual. To our knowledge, only five large deletions in SLC26A4 have been reported. However, until recently, PDS patients have not been systematically analysed for large deletions/duplications.

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