In vitro splicing assays for the seven splicing mutations identified in the USH1 genes.

<p>Gel electrophoresis shows the different splicing processes for WT minigene and mutants constructions. COS-7 cell transfection experiments were performed in duplicate. <b>A. c.470G>A (p.S157N, </b><b><i>MYO7A</i></b><b>).</b> Band A is the correct transcript of exon 5 (<i>MYO7A</i>). Band B is the skipping of involved exon. <b>B. c.1342_1343delAG (p.S448LfsX2, </b><b><i>MYO7A</i></b><b>).</b> Band A is the correct transcript corresponding to the exon 12 (<i>MYO7A</i>). Band B is the skipping of exon 12. <b>C. c.3652G>A (p.G1218R </b><b><i>MYO7A</i></b><b>).</b> Band A is the correct transcript of exon 29 (<i>MYO7A</i>). The band B is the exon skipping. Band C is the heteroduplex formation from band A and band B. Band D is the aberrant splicing process that include the deletion of 103-bp of 5′end of exon 29. <b>D. c.2289+1G>A (</b><b><i>CDH23</i></b><b>).</b> Band A is the normal transcript of exon 21 (<i>CDH23</i>). Band B is the skipping of exon 21. Band C is the aberrant splicing process that includes the first 149 nucleotides of intron 21. <b>E. c.6049G>A (p.G2017S, </b><b><i>CDH23</i></b><b>).</b> Band A is the correct transcript of exon 46 (<i>CDH23</i>). Band B is the skipping of exon 46. Band C is the heteroduplex formation from the band A and B. <b>F. c.8722+1delG (</b><b><i>CDH23</i></b><b>).</b> Band A is the correct splicing process of exon 60 (<i>CDH23</i>). Band B is the abnormal splicing process of exon 60 that shows a deletion of the last nucleotide (G) of the involved exon. <b>G. c.3717+2dupTT (</b><b><i>PCDH15</i></b><b>).</b> Band A is the correct transcript of exon 27 (<i>PCDH15</i>). Band B is the skipping of the involved exon. Band C is the transcript corresponding to the new donor splice site from exon 27 plus the first 52 nucleotides of the intron 27. Band D is the heteroduplex formation from the band B and the band D.