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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 1.2 kb deletion with 127 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
  1. Abbreviations: ADNSHL, autosomal dominant nonsyndromic hearing loss; ARNSHL, autosomal recessive nonsyndromic hearing loss; AS, Alström syndrome; DCM, dilated cardiomyopathy; DIDMOAD, aka Wolfram syndrome, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness - autosomal recessive; DIS, deafness-infertility syndrome - autosomal recessive; PDS, Pendred syndrome, deafness, inner ear abnormalities, and thyroid dysfunction - autosomal recessive; USH, Usher syndrome - autosomal recessive; XLNSHL, X-linked nonsyndromic hearing loss.