Table 1 CNVs identified to date in non-syndromic hearing loss genes and non-syndromic hearing loss mimic genes
From: Copy number variants are a common cause of non-syndromic hearing loss
Gene | Phenotype | Locus | CNV type | CNV size | Pubmed ID |
|---|---|---|---|---|---|
ALMS1 | AS | - | Deletion | Partial gene deletion | This study |
DFNA5 | ADNSHL | DFNA5 | Complex | 1.2Â kb deletion with 127Â bp insertion | 9771715 |
EYA4 | DCM + NSHL, ADNSHL | DFNA10 | Deletion/duplication | Partial gene deletion/partial gene duplication | 15735644, this study |
GJB2 | ARNSHL, ADNSHL | DFNB1/DFNA3 | Deletion | Partial, whole gene, and upstream regulatory region deletion | 19101659, 20236118, 15994881 |
GJB6 | ARNSHL, ADNSHL | DFNB1/DFNA3 | Deletion | Partial, whole gene, and upstream regulatory region deletion | 11896458, 11807148, 11668644, this study |
MYH9 | MYH9-Disease, ADNSHL | DFNA17 | Deletion/duplication | Partial and whole gene deletion/partial gene duplication | 18284620, this study |
MYO6 | ARNSHL, ADNSHL | DFNB37/DFNA22 | Deletion | Partial gene deletion | This study |
MYO7A | USH1, ARNSHL, ADNSHL | DFNB2/DFNA11/USH1B | Deletion | Partial gene deletion | 9382091 |
OTOA | ARNSHL | DFNB22 | Deletion/duplication/conversion | Partial or whole gene deletion/partial gene duplication/pseudogene conversions | 19888295, this study |
OTOF | ARNSHL | DFNB9 | Deletion | Partial gene deletion | 20211493 |
PCDH15 | USH1, ARNSHL | DFNB23/USH1F | Deletion/duplication | Partial gene deletion/partial gene duplication | 20538994, 16679490, 17277737 |
PDZD7 | USH2 modifier | - | Deletion | Partial gene deletion | This study |
PNPT1 | ARNSHL | DFNB70 | Duplication | Partial gene duplication | This study |
POU3F4 | XLNSHL | DFNX3 | Deletion/complex rearrangements | Deletions and rearrangements of upstream regulatory regions | 20412083, 16365218, 8872461, 19930154, 20668882 |
SERPINB6 | ARNSHL | - | Deletion | Partial gene deletion | This study |
SLC26A4 | PDS, ARNSHL | DFNB4/PDS | Deletion | Partial gene deletion | 17443271, 18285825, 19287372, 19287372, 12676893, this study |
STRC | ARNSHL, DIS | DFNB16 | Deletion/duplication/conversion | Whole gene deletions/whole gene duplications/pseudogene conversions | 11687802, 17098888, this study |
TECTA | ARNSHL | DFNB21/DFNA8/DFNA12 | Deletion | Partial gene deletion | 17431902 |
TJP2 | ADNSHL | DFNA51 | Duplication | Tandem inverted duplication of entire gene | 20602916 |
TMC1 | ARNSHL | DFNB7/DFNB11/DFNA36 | Deletion | Partial gene deletion | 11850618, 19187973, this study |
TMPRSS3 | ARNSHL | DFNB8/DFNB10 | Deletions/complex | Partial gene deletion/complex microsatellite insertion | 11137999, this study |
TRIOBP | ARNSHL | DFNB28 | Deletion | Whole gene deletion | This study |
USH1C | USH1/hyperinsulism/enteropathy syndrome | DFNB18/USH1C | Deletion | Whole gene deletion | 10973248 |
USH2A | USH2 | - | Deletion | Partial gene deletion | This study |
WFS1 | DIDMOAD, ADNSHL | DFNA6/DFNA14 | Deletion/duplication | Partial gene deletion/partial gene duplication | 15277431, this study |