Disease name

Nonsyndromic hearing loss, autosomal dominant (DFNA)
 Nonsyndromic hearing loss, autosomal dominant (DFNA)

Marker gene

Gene symbol Chromosome location Protein name
MYH9 22q12.3 Myosin-9
MYO7A 11q13.5 Myosin-VIIa
COL11A2 6p21.32 Collagen alpha-2(XI) chain
ACTG1 17q22.1 Actin, cytoplasmic 2
CCDC50 3q28 Coiled-coil domain-containing protein 50
COCH 14q12 Cochlin
CRYM 16p13.11-p12.3 Mu-crystallin homolog
DFNA5 7p15.3 Non-syndromic hearing impairment protein 5
DIAPH1 5q31 Protein diaphanous homolog 1
EYA4 6q23 Eyes absent homolog 4
GJB2 13q12.11 Gap junction beta-2 protein
GJB3 1p34.3 Gap junction beta-3 protein
GJB6 13q12.11 Gap junction beta-6 protein
GRHL2 8q22.3 Grainyhead-like protein 2 homolog
KCNQ4 1p34 Potassium voltage-gated channel subfamily KQT member 4
MIR96 - -
MYH14 19q13.33 Myosin-14
MYO1A 12q13-q15 Myosin-Ia
MYO6 6q14.1 Myosin-VI
POU4F3 5q32 POU domain, class 4, transcription factor 3
SLC17A8 12q23.1 Vesicular glutamate transporter 3
TECTA 11q23.3 Alpha-tectorin
TJP2 9q21.11 Tight junction protein ZO-2
TMC1 9q21.12 Transmembrane channel-like protein 1
WFS1 4p16.1 Wolframin
DSPP 4q22.1 Dentin sialophosphoprotein

Prevalence

미상

Inheritance

상염색체 우성

Age of onset

소아기

MIM number

124900
600101
600652
600965
600994
601316
601317
601369
601412
601543
601544
601868
602459
603622
603964
604717
605192
605583
606012
606282
606346
606451
606705
607017
607197
607453
607683
607841
608224
608372
608394
608641
608645
608652
609129
609965
612431
612642
613074
613558

Synonym

Autosomal dominant isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant nonsyndromic neurosensory deafness type DFNA
Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA

Summary

Under development.