Scientifica

Review Article

Genetics of Nonsyndromic Congenital Hearing Loss

Table 1

Genes related with nonsyndromic hearing loss.


Locus	Gene	Chromosomal localization	Type of inheritance	Protein	Function	Reference

DFNA1	DIAPH1	5q31	AD	Diaphanous 1	Actin polymerisation (cytoskeleton)	[44]
DFNA2A	KCNQ4	1p34	AD	KCNQ4	Voltage-gated K⁺ channel (ion haemostasis)	[51]
DFNA2B	GJB3 (Cx31)	1p34	AD	Connexin 31	Gap junction (ion haemostasis)	[57]
DFNA3A	GJB2 (Cx26)	13q12	AD	Connexin 26	Gap junction (ion haemostasis)	[54]
DFNA3B	GJB6 (Cx30)	13q12	AD	Connexin 30	Gap junction (ion haemostasis)	[55]
DFNA4	MYH14	19q13	AD	Nonmuscle myosin heavy chain XIV	Transport	[31]
DFNA4	CAECAM16	19q13	AD	Carcinogenic antigen-related cell adhesion molecule 16	TM attachment crown (adhesion)	[11]
DFNA8/12	TECTA	11q22-24	AD	A-tectorin	Stability and structure of TM (ECM)	[28]
DFNA9	COCH	14q12-q13	AD	Cochlin	Structure of spiral limbus	[30]
DFNA10	EYA4	6q22-q23	AD	Eyes absent 4	Regulation of transcription (transcription factor)	[42]
DFNA11	MYO7A	11q12.3-q21	AD	Myosin VIIa	Transport	[43]
DFNA13	COLL11A2	6p21	AD	Type XI collagen α2	Stability and structure of TM (ECM)	[26]
DFNA15	POU3F4	5q31	AD	Class 3 POU	Regulation of transcription (transcription factor)	[33]
DFNA17	MYH9	22q	AD	Nonmuscle myosin heavy chain IX	Transport	[24]
DFNA20/26	ACTG1	17q25	AD	γ-actin	Building cytoskeleton (cytoskeleton)	[50, 56]
DFNA22	MYO6	6q13	AD	Myosin VI	Regulation of exocytosis, anchoring stereocilia (cytoskeleton)	[29]
DFNA25	SLC17A8	12q21-24	AD	VGLUT-3	Regulation of exocytosis and endocytosis of glutamate (transport)	[32]
DFNA28	TFCP2L3	8q22	AD	Transcription factor CP2-like 3	Regulation of transcription (transcription factor)	[52]
DFNA48	MYO1A	12q13-q14	AD	Myosin Ia	Transport	[34]
DFNA50	MIR96	7q32	AD	MicroRNA96	Regulation of transcription (transcription factor)	[12]
DFNA51	TJP2		AD	Tight junction protein 2	Cell cycle signaling, binding tight junctions to membrane	[13]
DFNA56	TNC	9q31.3-q34.3	AD	Tenascin-C	Stability and structure of TM (ECM)	[14]
DFNA64	SMAC/DIABLO	12q24.31-12q24.32	AD	Second Mitochondria-Derived Activator of Caspase/Direct Inhibitor of Apoptosis protein Binding protein with a low pI	Cell cycle signaling	[15]
DFNA65	TBC1D24	16p13.3	AD	Tbc1 domain family, member 24	Encoding a GTPase-activating protein expressed in the cochlea	[16, 17]
DFNA67	OSBPL2	20q13.2-q13.33	AD	Oxysterol-binding Protein-like Protein 2	Intracellular transport of lipids, particularly oxysterol (transport)	[40, 45]
DFNA67	HOMER2	15q25.2	AD	Homer, drosophila, homolog of 2	Negative regulator of T cell activation	[46]
DFNB1A	GJB2 (Cx26)	13q11-q12	AR	Connexin 26	Gap junction (ion haemostasis)	[13]
DFNB1B	GJB6 (Cx30)	13q12	AR	Connexin 30	Gap junction (ion haemostasis)	[49]
DFNB2	MYO7A	11q	AR	Myosin VIIa	Transport	[25, 43]
DFNB3	MYO15A	17p11.2	AR	Myosin Xva	Transport	[18]
DFNB4	SLC26A4	7q31	AR	Pendrin	Acid-base balance of endolymph (ion haemostasis)	[39]
DFNB9	OTOF	2p23-p22	AR	Otoferlin	Fusion of synaptic vesicles with Ca⁺² (transport)	[38]
DFNB12	CDH23	10q21-q22	AR	Cadherin 23	Lateral and tip link (adhesion)	[19]
Modifier of DNFB12	ATP2b2/PMCA2	1p32.3	AR	ATP2b2	ATP dependent Ca⁺² pump	[53]
DFNB16	STRC	15q15	AR	Stereocilin	TM attachment links (adhesion)	[20]
DFNB18	USH1C	11p15.1	AR	Harmonin	Scaffolding protein (adhesion)	[48, 58]
DFNB21	TECTA	11q22-q24	AR	α-tectorin	Stability and structure of TM (ECM)	[10]
DFNB22	OTOA	16p12.2	AR	Otoancorin	TM attachment to nonsensroy cells (adhesion)	[21]
DFNB23	PCDH15	10q21-q22	AR	Protocadherin 15	Lateral and tip link (adhesion)	[22]
DFNB24	RDX	11q23	AR	Radixin	Actin binding to plasma membrane (cytoskeleton)	[23]
DFNB28	TRIOBP	22q13.1	AR	Trio-binding protein	Actin binding and organisation (cytoskeleton)	[27, 35]
DFNB29	CLDN14	21q22.3	AR	Claudin 14	Tight junction (ion haemostasis)	[36]
DFNB30	MYO3A	10p11.1	AR	Myosin IIIa	Transport	[37]
DFNB31	WHRN	9q32-q34	AR	Whirlin	Scaffolding protein (adhesion)	[41]
DFNB35	ESRRB	14q21.1-q24.3	AR	Oestrogen-related receptor β	Regulation of transcription (transcription factor)	[47]
DFNB36	ESPN	1p36.3-p36.1	AR	Espin	Actin crosslinking and bundling (cytoskeleton)	[59]
DFNB37	MYO6	6q13	AR	Myosin VI	Regulation of exocytosis, stereocilia anchoring (transport)	[60]
DFNB49	TRIC	5q12.3-q14.1	AR	Tricellulin	Tight junction (ion haemostasis)	[53]
DFNB53	COL11A2	6p21.3	AR	Type XI collagen α2	Stability and structure of TM (ECM)	[61]
DFNB61	SLC26A5		AR	Prestin	Electromotility	[62]
DFNB67	TMHS	6p21.3	AR	Tetraspan membrane protein	Transient link (adhesion)	[63]
DFNB73	BSND		AR	Barttin	K⁺ channel maturation and trafficking (ion haemostasis)	[64]
DFNB79	TPRN	9q34.3	AR	Taperin	Actin regulation (cytoskeleton)	[65]
DFNB84	PTPRQ	12q21.31-q21.2	AR	Protein tyrosine phosphate receptor Q	Transient link (adhesion)	[66]
DFNB91	GJB3	6p25	AR	Connexin 31	Gap junction (ion haemostasis)	[67]
DFNB93	CABP2	11q13.2	AR	Calcium-binding protein 2	(ion haemostasis)	[68]
DFNB94	NARS2	11q14.1	AR	Asparaginyl-tRNA synthetase 2	(transport)	[69]
DFNB97	MET	7q31.2	AR	MET protooncogene	Cell-surface receptor for hepatocyte growth factor (adhesion)	[70]
DFNB98	TSPEAR	21q22.3	AR	Thrombospondin-type laminin g domain and ear repeats	Cell permeabilization (transport)	[71]
DFNB99	TMEM132E	17q12	AR	Transmembrane protein 132e	Extracellular receptor	[72]
DFNB101	GRXCR2	5q32	AR	Glutaredoxin, cysteine-rich 2	Organisation of stereocilia (adhesion)	[73]
DFNB102	EPS8	12p12.3	AR	Epidermal growth factor receptor pathway substrate 8	Regulating Rac-specific GEF activity (transcription factor)	[74]
DFNB103	CLIC5	6p21.1	AR	Chloride intracellular channel 5	(ion haemostasis)	[75]
DFNB103	FAM65B	6p22.3	AR	Family with sequence similarity 65, member b	(Cytoskleton)	[76]
Usher syndrome	SANS/USH1G	17q24-25	AR	SANS	Scaffolding protein (adhesion)	[77]
Usher syndrome	USH2A	1q41	AR	Usherin	Ankle link (adhesion)	[78]
Usher syndrome	VLGR1B		AR	Very large G protein-coupled receptor 1	Ankle link (adhesion)	[79]
DFN2	PRPS1	Xq22.3	X-linked	Phosphoribosylpyrophosphate synthetase 1	Purine and pyrimidine biosynthesis	[80]
DFN3	POU3F4	Xq21	X-linked	Class 3 POU	Regulation of transcription (transcription factor)	[81]
DFN6	SMPX	Xp21.2	X-linked	Small muscle protein X-linked	Stereocilial development and maintenance (cytoskeleton)	[82]
DFNX6	COL4A6	Xq22.3	X-linked	Collagen, type IV, alpha-6	Stability and structure of TM (ECM)	[83]

DFNA = nonsyndromic deafness, autosomal dominant; DFNB = nonsyndromic deafness, autosomal recessive; AD = autosomal dominant; AR = autosomal recessive; TM = tectorial membrane; ECM = extracellular matrix; Ca⁺² = calcium ion; K⁺ = potassium ion.