Autosomal recessive

Locus (OMIM)

Gene (OMIM)

Reference (OMIM)

DFNB1A

GJB2

Kelsell et al., 1997

DFNB1B

GJB6

Del Castillo et al., 2002

DFNB2

MYO7A

Liu et al., 1997 Weil et al., 1997

DFNB3

MYO15A

Wang et al., 1998

DFNB4

SLC26A4

Li et al., 1998

DFNB6

TMIE

Naz et al., 2002

DFNB7/11

TMC1

Kurima et al., 2002

DFNB8/ 10  

TMPRSS3

Scott et al., 2001

DFNB9

OTOF

Yasunaga et al., 1999

DFNB12

CDH23

Bork et al., 2001

DFNB15/72/95 GIPC3 (see note 1) Ain et al., 2007 ; Rehman et al., 2011 ; Charizopoulou et al., 2011

DFNB16

STRC

Verpy et al., 2001

DFNB18

USH1C

Ouyang et al., 2002 ; Ahmed et al., 2002

DFNB18B OTOG Schraders et al., 2012

DFNB21

TECTA

Mustapha et al., 1999

DFNB22

OTOA

Zwaenepoel et al., 2002

DFNB23

PCDH15

Ahmed et al., 2003

DFNB24

RDX

Khan et al., 2007

DFNB25

GRXCR1

Schraders et al., 2010

DFNB28

TRIOBP

Shahin et al., 2006 ; Riazuddin et al., 2006

DFNB29

CLDN14

Wilcox et al., 2001

DFNB30

MYO3A

Walsh et al., 2002

DFNB31

WHRN

Mburu et al., 2003

DFNB35

ESRRB

Collin et al., 2008

DFNB36

ESPN

Naz et al., 2004

DFNB37

MYO6

Ahmed et al., 2003

DFNB39

HGF

Schultz et al., 2009

DFNB42 ILDR1 Borck et al., 2011
DFNB44 ADCY1   Santos-Cortez et al., 2014
DFNB48 CIB2 Riazuddin et al., 2012

DFNB49

MARVELD2

Riazuddin et al., 2006

DFNB49 BDP1 Girotto et al., 2013

DFNB53

COL11A2

Chen et al., 2005

DFNB59

PJVK

Delmaghani et al., 2006

DFNB60 SLC22A4 Ben Said et al., 2016

DFNB61

SLC26A5

Liu et al., 2003

DFNB63

LRTOMT/COMT2

Ahmed et al., 2008 ; Du et al., 2008 

DFNB66 DCDC2 Grati et al., 2015

DFNB66/67

LHFPL5

Tlili et al., 2005 ; Shabbir et al., 2006 ; Kalay et al., 2006

DFNB68 S1PR2 Santos-Cortez et al., 2016
DFNB70 PNPT1 von Ameln et al., 2012
DFNB73 BSND Riazuddin et al., 2009
DFNB74 MSRB3

Waryah et al., 2009 ; Ahmed et al., 2011

DFNB76 SYNE4 Horn et al., 2013

DFNB77

LOXHD1

Grillet et al., 2009

DFNB79 TPRN Rehman et al., 2010 ; Li et al., 2010  
DFNB82 GPSM2 Walsh et al., 2010
DFNB84 PTPRQ Schraders et al., 2010
DFNB84 OTOGL Yariz et al., 2012
DFNB86 TBC1D24 Rehman et al., 2014
DFNB88 ELMOD3 Jaworek et al., 2013
DFNB89 KARS Santos-Cortez et al., 2013
DFNB91 SERPINB6 Sirmaci et al., 2010
DFNB93 CABP2 Schrauwen et al., 2012
DFNB94 NARS2 Simon et al., 2015
DFNB97 MET Mujtaba et al., 2015
DFNB98
TSPEAR Delmaghani et al., 2012
DFNB99 TMEM132E Li et al., 2015
DFNB101 GRXCR2 Imtiaz et al., 2014
DFNB102 EPS8 Behlouli et al., 2014
DFNB103 CLIC5 Seco et al., 2014
DFNB105 CDC14A Delmaghani et al., 2016

FAM65B Diaz-Horta et al., 2014

EPS8L2 Dahmani et al., 2015

WBP2 Buniello et al., 2016

ROR1  (see note 2) Diaz-Horta et al., 2016

 

 

 

 

 


Note 1: GIPC3 is responsible for progressive sensorineural hearing loss that can be associated with audiogenic seizures

Note 2: ROR1 is responsible for autosomal recessive hearing loss associated with common cavity inner ear malformations and auditory neuropathy