Disease name

Nonsyndromic hearing loss, autosomal recessive (DFNB)
 Nonsyndromic hearing loss, autosomal recessive (DFNB)

Marker gene

Gene symbol Chromosome location Protein name
BSND 1q32.3 Barttin
SLC26A4 7q22.3 Pendrin
CDH23 10q22.1 Cadherin-23
MYO7A 11q13.5 Myosin-VIIa
PCDH15 10q21.1 Protocadherin-15
USH1C 11p15.1 Harmonin
DFNB31 9q32 Whirlin
COL11A2 6p21.32 Collagen alpha-2(XI) chain
GJB2 13q12.11 Gap junction beta-2 protein
GJB6 13q12.11 Gap junction beta-6 protein
MYO6 6q14.1 Myosin-VI
TECTA 11q23.3 Alpha-tectorin
TMC1 9q21.12 Transmembrane channel-like protein 1
CLDN14 21q22.13 Claudin-14
DFNB59 2q31.2 Pejvakin
ESPN 1p36.31-p36.11 Espin
ESRRB 14q24.3 Steroid hormone receptor ERR2
GJA1 6q22.31 Gap junction alpha-1 protein
GPSM2 1p13.3 G-protein-signaling modulator 2
GRXCR1 4p13 Glutaredoxin domain-containing cysteine-rich protein 1
HGF 7q21.11 Hepatocyte growth factor
KCNJ10 1q23.2 ATP-sensitive inward rectifier potassium channel 10
LHFPL5 6p21.31 Tetraspan membrane protein of hair cell stereocilia
LOXHD1 18q21.1 Lipoxygenase homology domain-containing protein 1
LRTOMT 11q13.4 Leucine-rich repeat-containing protein 51
MARVELD2 5q13.2 MARVEL domain-containing protein 2
MYO15A 17p11.2 Myosin-XV
MYO3A 10p11.1 Myosin-IIIa
OTOA 16p12.2 Otoancorin
OTOF 2p23.3 Otoferlin
PTPRQ 12q21.31 Phosphotidylinositol phosphatase PTPRQ
RDX 11q23.1 Radixin
SERPINB6 6p25.2 Serpin B6
SLC26A5 7q22.1 Prestin
STRC 15q15.3 Stereocilin
TMIE 3p21.31 Transmembrane inner ear expressed protein
TMPRSS3 21q22.3 Transmembrane protease serine 3
TPRN 9q34.3 Taperin
TRIOBP 22q13.1 TRIO and F-actin-binding protein

Prevalence

미상

Inheritance

상염색체 열성

Age of onset

신생아기, 영아기

MIM number

220290
220700
220900
600060
600316
600791
600792
600971
600974
601071
601072
601386
601869
602092
603010
603098
603629
603678
603720
604060
604943
605316
605428
605608
605818
607039
607084
607101
607239
607821
608219
608264
608265
608565
608653
609006
609439
609533
609646
609647
609706
609823
609941
609946
609952
610143
610153
610154
610212
610220
610248
610265
610419
611022
611451
611918
612433
612643
612644
612645
612789
613079
613285
613307
613391
613392
613453
613557

Synonym

Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive nonsyndromic neurosensory deafness type DFNB

Summary

Under development.