. 2021 Aug 10;6(5):958–967. doi: 10.1002/lio2.633

TABLE 1.

Summary of hearing loss phenotype and gene expression profiles of the prevalent deafness genes

	Length (bp)
Gene (OMIM)	[NM No.]	Locus (OMIM)	Hearing loss phenotype in human	Expression profiles in the cochlea	Mouse model	Hearing loss phenotype in mice	Reference
GJB2	2290	DFNB1A	Congenital mild to profound	SCs	Conditional Gjb2 KO mouse	Moderate	12, 13, 14, 15, 16
	[NM_004004.6]	DFNA3A	Late onset mild to moderate		Tg Cx26 R75W	Profound
STRC	5515	DFNB16	Congenital/childhood onset mild to moderate, nonprogressive	Stereocilia of the OHC	Strc ^−/−	Progressive	17, 18
	[NM_153700.2]
SLC26A4	4737	DFNB4	Congenital, high‐frequency, fluctuating	Outer sulcus	Pds ^−/−	Profound	19, 20, 21, 22
	[NM_000441.2]			Spiral prominence epithelial cells	Slc26a4 insufficient	Fluctuating
TECTA	7353	DFNA12	Mild to moderate, mid‐ or high‐ frequency	Tectorial membrane	(None)		23, 24, 25
	[NM_005422.4]
MYO15A	11 811	DFNB3	Congenital profound or late onset moderate to severe, progressive	HCs	Shaker‐2	Profound	26, 27, 28
	[NM_016239.4]
MYO7A	7483	DFNA11	Late onset mild to severe, progressive	HCs, cuticular plate, synaptic region	Headbanger	Low frequency	29, 30, 31, 32, 33, 34
	[NM_000260.4]	DFNB2, USH1B	Congenital profound		Shaker‐1	Progressive
USH2A	6372	USH2A	Congenital moderate to severe	Ankle link of the HCs	Ush2a ^−/−	Moderate, nonprogressive	35, 36, 37
	[NM_007123.6]
CDH23	11 138	DFNB12	Moderate to profound, high‐frequency progressive	Tip link of the HCs	salsa, C57BL/6J	Progressive	38, 39, 40, 41, 42, 43
	[NM_022124.6]	USH1D	Congenital profound		Waltzer	Early‐onset profound
ADGRV1	19 557	USH2C	High‐frequency	Ankle link of the HCs	CBA‐2^ush/ush	Severe	6, 44, 45
	[NM_032119.4]
TMC1	5340	DFNA36	Postlingual progressive	HCs	Beethoven	Progressive	46, 47, 48, 49
	[NM_138691.3]	DFNB7/11	Prelingual, severe to profound		Baringo	Early‐onset profound
PCDH15	6962	DFNB23	Prelingual profound	Tip link of the HCs	Ames waltzer	Profound	38, 50, 51
	[NM_033056.4]	USH1F	Prelingual profound
OTOF	7214	DFNB9	Congenital or prelingual severe to profound	Synaptic vesicles of the IHC	Otof ^−/−	Profound	52, 53
	[NM_194248.3]
TMPRSS3	2399	DFNB8/10	Congenital severe or postlingual progressive, high frequency	HCs, SGNs	Tmprss3 ^Y260X/Y260X	Profound	54, 55, 56
	[NM_024022.4]

Abbreviations: HC, hair cell; IHC, inner hair cell; KO, knockout; OHC, outer hair cell; SC, supporting cell; SGN, spiral ganglion neuron.