Fig 1.
Pedigrees and audiograms of subjects from 5 families possibly carrying compound heterozygous CDH23 mutations.
Audiogram: Right (red) and left (blue) ear hearing thresholds. Pedigree: Filled symbols represent hearing-impaired individuals, and clear symbols denote those with normal hearing. Black arrow indicates the proband. Possible arrangement of CDH23 variants in SB116 family based on haplotype and segregation study.
Table 1.
Genotype of individuals segregating homozygous or heterozygous mutations of CDH23 identified by TRS or WES, and from the previous study by Kim et al.
[9].
Table 2.
Ethnic-specific MAF and in silico pathogenicity prediction of CDH23 variants in our study.
Fig 2.
Suggestion of Genotypic Hierarchy of CDH23 mutations deciding the fate of USH1D and DFNB12.