Table 1.
Comparison of the Invader Assay-Based Mutation Screening and Massively Parallel DNA Sequencing-Based Comprehensive Screening of Deafness Genes
| Mutations | Number of patients with mutations detected by Invader screening (n=384) | Variant alleles detected by Invader screening (n=768) | Variant alleles detected by MPS (n=768) | Variant alleles detected by direct sequencing (n=768) |
|---|---|---|---|---|
| GJB2:NM_004004:c235delC:p.L79fs | 42 (10.9%) | 52 (6.8%) | 52 | 52 |
| GJB2:NM_004004:c.109G>A:p.V37I | 19 (4.9%) | 21 (2.7%) | 21 | 21 |
| GJB2:NM_004004:c.[134G>A; 408C>A]:p.[G45E; Y136X] | 16 (4.2%) | 17 (2.2%) | 18b | 17 |
| GJB2:NM_004004:c.427C>T:p.R143W | 13 (3.4%)a | 13 (1.7%)a | 15b | 14 |
| GJB2:NM_004004:c.176_191del16:p.59_64del | 9 (2.3%) | 10 (1.3%) | 10 | 10 |
| GJB2:NM_004004:c.257C>G:p.T86R | 5 (1.3%) | 6 (0.8%) | 6 | 6 |
| GJB2:NM_004004:c.299_300del:p.100_100del | 6 (1.6%) | 6 (0.8%) | 6 | 6 |
| SLC26A4:NM_000441:c.2168A>G:p.H723R | 15 (3.9%) | 20 (2.6%) | 20 | 20 |
| SLC26A4:NM_000441:c.1229C>T:p.T410M | 4 (1.0%) | 6 (0.8%) | 6 | 6 |
| SLC26A4:NM_000441:c.1174A>T:p.N392Y | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.367C>T:p.P123S | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.2162C>T:p.T721M | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.601-1G>A:Splicing | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.916dupG:p.I305fs | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.1648dupT:p.R549fs | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| SLC26A4:NM_000441:c.919-2A>G:Splicing | 1 (0.3%) | 1 (0.1%) | 0c | 1 |
| CRYM:NM_001888:c.941A>C:p.K314T | 1 (0.3%) | 1 (0.1%) | 1 | 1 |
| Mitochondria 1555A>G | 5 (1.3%) | — | — | — |
| Mitochondria 3243A>G | 8 (2.1%) | — | — | — |
| Mitochondria 8296A>G | 1 (0.3%) | — | — | — |
a
c.427C>T mutation was not detected by Invader screening in one case (reason unknown).
b
MPS misgenotyped heterozygous as homozygous mutations in one case each because of the other mutations located in the AmpliSeq primer region (see details in main text).
c
c.919-2A>G mutation was located in the region not covered by AmpliSeq primers.
MPS, massively parallel DNA sequencing.