Table 2 Summary of all CNVs identified in 686 individuals requesting genetic testing for deafness using a comprehensive genetic testing platform
From: Copy number variants are a common cause of non-syndromic hearing loss
Gene | Total CNVs | Carrier CNVs | Causative CNVs (%) | Deletions (%) | Conversions (%) | Duplications (%) |
|---|---|---|---|---|---|---|
STRC | 105 (73%) | 35 (61%) | 70 (81%) | 65 (71%) | 35 (92%) | 5 (38%) |
OTOA | 18 (13%) | 11 (19%) | 7 (8%) | 12 (13%) | 3 (8%) | 3 (23%) |
GJB6 | 4 (3%) | 1 (2%) | 3 (3%) | 4 (4%) | - | - |
USH2A | 3 (2%) | 2 (4%) | 1 (1%) | 2 (2)% | - | 1 (8%) |
MYH9 | 2 (1%) | 1 (2%) | 1 (1%)a | 1 (1%) | - | 1 (8%) |
ALMS1 | 1 (1%) | 1 (2%) | - | 1 (1%) | - | - |
MYO6 | 1 (1%) | 1 (2%) | - | 1 (1%) | - | - |
PDZD7 | 1 (1%) | 1 (2%) | - | 1 (1%) | - | - |
SERPINB6 | 1 (1%) | 1 (2%) | - | 1 (1%) | - | - |
SLC26A4 | 1 (1%) | - | 1 (1%) | 1 (1%) | - | - |
TMC1 | 1 (1%) | - | 1 (1%) | 1 (1%) | - | - |
TMPRSS3 | 1 (1%) | - | 1 (1%) | 1 (1%) | - | - |
TRIOBP | 1 (1%) | - | 1 (1%)a | 1 (1%) | - | - |
EYA4 | 1 (1%) | 1 (2%) | - | - | - | 1 (8%) |
WFS1 | 1 (1%) | 1 (2%) | - | - | - | 1 (8%) |
PNPT1 | 1 (1%) | 1 (2%) | - | - | - | 1 (8%) |
Total | 143 | 57 | 86 | 92 | 38 | 13 |