Table 1.
Mutations of SLC26A4, POU3F4, GJB2 and MTRNR1 in 12 familial NSHL found by PCR-Sanger sequencing.
Figure 1.
Analysis flow of NSHL-80 targeted resequencing on familial NSHL.
Targeted resequencing data from 20 familial NSHL cases were filtered through five steps to select candidate SNVs in NSHL genes.
Figure 2.
Validation of candidate mutations by PCR-Sanger sequencing.
Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in chromatogram of Sanger sequencing.
Table 2.
Number of candidate SNVs in 20 familial NSHL through five filtering steps.
Table 3.
List of final candidate SNVs in 13 familial NSHL.
Figure 3.
Interpretation of targeted resequencing in 20 probands.
(A) An average number of candidate SNVs with standard errors were shown at five filtering steps. (B) The relationship between the numbers of candidate SNVs and read depth were plotted in 20 probands. (C) Candidate SNV-found patient group (Found) was compared with patient group without candidate SNV (Not-found) in the number of candidate variants, read depth and called SNVs.
Figure 4.
Proposed decision procedure for the genetic diagnosis of familial NSHL.
We have recruited 145 sensorineural hearing loss patients, Among 115 NSHL cases, we started with 32 familial NSHL because we could check the inheritance patterns in the family. First, we excluded 12 cases with typical clinical features by PCR-Sanger sequencing. In the remaining 20 familial NSHL probands, we found candidate SNVs in 13 probands. In further study, we can find SNVs by whole exome sequencing (WES).