Table 4 Molecular alterations detected in 180 individuals
No. of cases | Alterations detected | Gene(s) | Onset | Severity |
|---|---|---|---|---|
20 | c.35delG/c.35delG | GJB2 | Prelingual | Severe/profound |
3 | p.V27I/wt | GJB2 | Prelingual/postlingual | Moderade/profound |
2 | c.35delG/wt | GJB2 | Postlingual | Moderade/profound |
2 | p.M34T/wt | GJB2 | Prelingual/postlingual | Moderade/profound |
2 | p.V609G/wt | SLC26A4 | Prelingual/postlingual | Severe/profound |
2 | m.1555A > G | MT-RNR1 | Postlingual | Moderade/profound |
1 | c.35delG/wt; ΔGJB6-D13S1830/wt | GJB2; GJB6 | Prelingual | Profound |
1 | c.35deG/p.L90P | GJB2 | Postlingual | Moderade |
1 | c.35delG/c.-23 + 1G > A | GJB2 | Prelingual | Profound |
1 | c.35delG/c.167delT | GJB2 | Prelingual | Moderade-severe |
1 | c.35delG/p.W172* | GJB2 | Prelingual | Profound |
1 | p.35delG/p.M34T | GJB2 | Postlingual | Moderade |
1 | p.E47*/wt; ΔGJB6-D13S1830/wt | GJB; GJB6 | Prelingual | Profound |
1 | p.K168R/wt | GJB2 | Postlingual | Profound |
1 | p.M34T/p.V37I | GJB2 | Postlingual | Moderade |
1 | p.L90P/wt | GJB2 | Postlingual | Moderade |
1 | p.V37I/p.V95M | GJB2 | Postlingual | Profound |
1 | p.R184P/c.35delG | GJB2 | Prelingual | Profound |
1 | p.V27I/p.E114G | GJB2 | Postlingual | Moderade |
1 | p.W24*/p.W24* | GJB2 | Postlingual | Profound |
1 | p.R75Q/wt | GJB2 | Postlingual | Moderade |
1 | p.V27I/wt; p.V609G/wt | GJB2; SLC26A4 | Postlingual | Profound |
1 | p.V138F/wt | SLC26A4 | Postlingual | Profound |
1 | p.V609G/wt; c.5800_5801dupC/wt | SLC26A4; OTOF | Postlingual | Profound |
1 | p.R776C/wt | SLC26A4 | Postlingual | Profound |
1 | p.R1746Q/wt | CDH23 | Postlingual | Moderade |
1 | m.7445A > G | MT-TS1 | Prelingual | Profound |
1 | p.S3525G/wt | MYO15A | Prelingual | Profound |
1 | ΔGJB6-D13S1854/wt | GJB6 | Postlingual | Moderade |