Table 3.
Comparison of the Direct Sequencing Analysis of the Selected Genes and Massively Parallel DNA Sequencing-Based Comprehensive Screening
| Number of patients with mutations detected by direct sequencing (n=384) | Variant alleles detected by direct sequencing (n=768) | Variant alleles detected by MPS (n=768) | |
|---|---|---|---|
| GJB2:NM_004004:c.95G>A:p.R32H | 2 (0.5%) | 2 (0.3%) | 2 |
| GJB2:NM_004004:c.11G>A:p.G4D | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.257C>T:p.T86M | 0a | 0a | 1 |
| GJB2:NM_004004:c.511_512insAACG:p.A171fs | 4 (1.0%) | 4 (0.5%) | 4 |
| GJB2NM_004004:c.595T>C:p.S199P | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.558_559ins46:p.E187_K188delinsEKTVFTVFMIAVSGIX | 2 (0.5%) | 2 (0.3%) | 2 |
| GJB2:NM_004004:c.583A>G:p.M195V | 2 (0.5%) | 2 (0.3%) | 2 |
| GJB2:NM_004004:c.53C>G:p.T18S | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.379C>T:p.R127C | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.511G>A:p.A171T | 0a | 0a | 1 |
| GJB2:NM_004004:c.334_335del:p.112_112del | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.318C>A:p.F106L | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.637T>A:p.L213M | 1 (0.3%) | 1 (0.1%) | 1 |
| GJB2:NM_004004:c.223C>T:p.R75W | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.945T>A:p.Y315X | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.2123T>C:p.F708S | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.641A>G:p.Y214C | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.863T>A:p.L288X | 2 (0.5%) | 2 (0.3%) | 2 |
| SLC26A4:NM_000441:c.1264-2A>G:Splicing | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.918+1G>A:Splicing | 1 (0.3%) | 1 (0.1%) | 1 |
| SLC26A4:NM_000441:c.107_120del13ins16 | 1 (0.3%) | 1 (0.1%) | 0b |
| SLC26A4:NM_000441:c.147C>G:p.S49R | 1 (0.3%) | 1 (0.1%) | 0b |
a
These mutations were not detected by direct sequencing in one case each (low signal intensity).
b
These mutations were not detected by MPS (reason unknown).