Skip to main content

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
  1. See Additional file2 for details. aPart of a large CNV encompassing at least 1.5 MB (see text for details).