<p>(A) The top panel shows the pedigree and genotype of each family. The arrows indicate the proband (KNUF25 II-1, YS-149 II-6), and filled symbols represent affected individuals from these families. The asterisks denote individuals screened in this study. The bottom panel shows pure tone audiograms of affected individuals (KNUF25 II-1, KNUF25 I-2, YS-149 II-6). The red (circles) and black (crosses) lines represent unmasked air conduction thresholds for the right and left ears, respectively. (B) The top panel shows partial DNA sequences of the <i>TJP2</i> gene with the genotypes of affected and unaffected individuals within the family. The position of a changed nucleotide is indicated by a square. The bottom panel indicates the evolutionary conservation of amino acids, including threonine 1188, in vertebrate species. The arrow and box designate the location of the mutation.</p
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