Autosomal Recessive Nonsyndromic Hearing Loss Genes

Locus (OMIM) Gene (OMIM) Key Reference (Pubmed)
DFNB1A GJB2 Kelsell et al., 1997
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 (see note 2) 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
DFNB26 GAB1 Yousaf et al., 2018
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
DFNB32/105 CDC14A (see note 3) Delmaghani et al., 2016; Imtiaz et al., 2017
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
DFNB57 PDZD7 Booth et al, 2015
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 (see note 4) 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
DFNB100 PPIP5K2 Yousaf et al., 2018
DFNB101 GRXCR2 Imtiaz et al., 2014
DFNB102 EPS8 Behlouli et al., 2014
DFNB103 CLIC5 Seco et al., 2014
DFNB104 FAM65B/RIPOR2 Diaz-Horta et al., 2014
DFNB105 see DFNB32  
DFNB106 EPS8L2 Dahmani et al., 2015
DFNB108 ROR1 (see note 5) Diaz-Horta et al., 2016
  WBP2 Buniello et al., 2016
  ESRP1 Rohacek et al., 2017
  MPZL2 Wesdorp et al., 2018
  CEACAM16 Booth et al., 2018
  GRAP Li et al., 2019
  SPNS2 Ingham et al., 2019
  CLDN9 Sineni et al., 2019
  CLRN2 Vona et al., 2021
  GAS2 Chen et al., 2021

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

Note 2: STRC causes Deafness-Infertility syndrome when deleted in conjunction with CATSPER2 (Zhang et al., 2007).

Note 3: Some variants in CDC14A causes Deafness-Infertility Syndrome in males.

Note 4: GPSM2 was initially reported as a non-syndromic hearing loss gene but later determined to cause Chudley-McCullough syndrome, see Diaz-Horta et al 2012 and Doherty et al 2012.

Note 5: ROR1 is responsible for autosomal recessive hearing loss associated with common cavity inner ear malformations and auditory neuropathy