Autosomal Recessive Non-syndromic Hearing Loss Loci

Locus (OMIM) Chrom Location Gene (OMIM) Key reference (Pubmed)
DFNB1A 13q12 GJB2 Guilford et al., 1994; Kelsell et al., 1997
DFNB2 11q13.5 MYO7A Guilford et al., 1994; Liu et al., 1997; Weil et al., 1997
DFNB3 17p11.2 MYO15A Friedman et al., 1995; Wang et al., 1998
DFNB4 7q31 SLC26A4 Baldwin et al., 1995; Li et al., 1998
DFNB5 (see note 1) 14q12 unknown Fukushima et al., 1995
DFNB6 3p14-p21 TMIE Fukushima et al., 1995; Naz et al, 2002
DFNB7/11 9q13-q21 TMC1 Jain et al., 1995; Scott et al., 1996; Kurima et al., 2002
DFNB8/10 21q22 TMPRSS3 Veske et al., 1996; Bonné-Tamir et al., 1996; Scott et al., 2001
DFNB9 (see note 2) 2p22-p23 OTOF Chaib et al., 1996; Yasunaga et al., 1999
DFNB10 see DFNB8    
DFNB11 see DFNB7    
DFNB12 10q21-q22 CDH23 Chaib et al., 1996; Bork et al., 2001
DFNB13 7q34-36 unknown Mustapha et al., 1998
DFNB14 7q31 unknown Mustapha et al., 1998
DFNB15/72/95 3q21-q25
GIPC3 Chen et al., 1997; Charizopoulou et al., 2011; Rehman et al., 2011
DFNB16 15q21-q22 STRC Campbell et al., 1997; Verpy et al., 2001
DFNB17 7q31 unknown Greinwald et al., 1998
DFNB18 11p14-15.1 USH1C Jain et al., 1998; Ouyang et al., 2002; Ahmed et al., 2002
DFNB18B 11p15.1 OTOG Scharders et al., 2012
DFNB19 18p11 unknown The Molecular Biology of Hearing and Deafness meeting Bethesda, October 8-11, 1998 (Green et al.,abstract 108)
DFNB20 11q25-qter unknown Moynihan et al., 1999
DFNB21 11q TECTA Mustapha et al., 1999
DFNB22 16p12.2 OTOA Zwaenepoel et al., 2002
DFNB23 10p11.2-q21 PCDH15 Ahmed et al, 2003
DFNB24 11q23 RDX Khan et al., 2007
DFNB25 4p13 GRXCR1 Schraders et al., 2010
DFNB26 (see note 3) 4q31 GAB1 Riazuddin et al., 2000; Yousaf et al, 2018
DFNB27 2q23-q31 unknown Pulleyn et al., 2000
DFNB28 22q13 TRIOBP Walsh et al., 2000; Shahin et al, 2006; Riazuddin et al, 2006
DFNB29 21q22 CLDN14 Wilcox et al., 2001
DFNB30 10p11.1 MYO3A Walsh et al., 2002
DFNB31 9q32-q34 WHRN Mustapha et al., 2002; Mburu et al., 2003
DFNB32/105 1p13.3-22.1 CDC14A Masmoudi et al., 2003; Imtiaz et al., 2017
DFNB33 9q34.3 unknown Medlej-Hashim et al., 2002
DFNB35 14q24.1-24.3 ESRRB Ansar et al., 2003; Collin et al., 2008
DFNB36 1p36.3 ESPN Naz et al., 2004
DFNB37 6q13 MYO6 Ahmed et al., 2003
DFNB38 6q26-q27 unknown Ansar et al., 2003
DFNB39 7q21.1 HGF Schultz et al., 2009
DFNB40 22q unknown Delmaghani et al., 2003
DFNB42 3q13.31-q22.3 ILDR1 Aslam et al., 2005; Borck et al., 2011
DFNB44 7p14.1-q11.22 ADCY1 Ansar et al., 2004; Santos-Cortez et al., 2014
DFNB45 1q43-q44 unknown Bhatti et al., 2008
DFNB46 18p11.32-p11.31 unknown Mir et al., 2005
DFNB47 2p25.1-p24.3 unknown Hassan et al., 2005
DFNB48 15q23-q25.1 CIB2 Ahmad et al., 2005
DFNB49 5q12.3-q14.1. MARVELD2/BDP1 Ramzan et al., 2004; Riazuddin et al., 2006; Girotto et al., 2013
DFNB51 11p13-p12 unknown Shaikh et al., 2005
DFNB53 6p21.3 COL11A2 Chen et al., 2005
DFNB55 4q12-q13.2 unknown Irshad et al., 2005
DFNB59 2q31.1-q31.3 PJVK Delmaghani et al., 2006
DFNB60 5q23.2-q31.1 SLC22A4 Ben Said et al., 2016
DFNB61 7q22.1 SLC26A5 Liu et al., 2003
DFNB62 12p13.2-p11.23 unknown Ali et al., 2006
DFNB63 11q13.2-q13.4 LRTOMT / COMT2 Du et al., 2008; Ahmed et al., 2008
DFNB65 20q13.2-q13.32 unknown Tariq et al., 2006
DFNB66 6p21.2-22.3 DCDC2 Grati et al., 2015
DFNB66/67 6p21.31 LHFPL5 Tlili et al., 2005; Shabbir et al., 2006; Kalay et al., 2006
DFNB68 19p13.2 S1PR2 Santos et al., 2006; Santos-Cortez et al., 2016
DFNB71 8p22-21.3 unknown Chishti et al., 2009
DFNB72 see DFNB15    
DFNB73 1p32.3 BSND Riazuddin et al., 2009
DFNB74 12q14.2-q15 MSRB3 Waryah et al., 2009; Ahmed et al., 2011
DFNB76 19q13.12 SYNE4 Horn et al., 2013
DFNB77 18q12-q21 LOXHD1 Grillet et al., 2009
DFNB79 9q34.3 TPRN Rehman et al., 2010
DFNB80 2p16.1-p21 unknown Mosrati et al., 2013
DFNB81 19p unknown Rehman et al., 2011
DFNB82 1p13.1 (see note 4) Shahin et al., 2010
DFNB83 see DFNA47    
DFNB84 12q21.2 PTPRQ / OTOGL Schraders et al., 2010; Yariz et al., 2012
DFNB85 17p12-q11.2 unknown Shahin et al., 2010
DFNB86 16p13.3 TBC1D24 Ali et al., 2012Rehman et al., 2014
DFNB88 2p12-p11.2 ELMOD3 Jaworek et al., 2013
DFNB89 16q21-q23.2 KARS Basit et al., 2011
DFNB90 7p22.1-p15.3 unknown Ghazanfar et al., 2011
DFNB91 6p25 SERPINB6 Sirmaci et al., 2010
DFNB93 11q12.3-11q13.2 CABP2 Tabatabaiefar et al., 2011
DFNB94   NARS2 Simon et al., 2015
DFNB95 see DFNB15    
DFNB96 1p36.31-p36.13 unknown Ansar et al., 2011
DFNB97 7q31.2-q31.31 MET Mujtaba et al., 2015
DFNB98 21q22.3-qter TSPEAR Delmaghani et al., 2012
DFNB99 17q12 TMEM132E Li et al., 2015
DFNB100 5q13.2-q23.2 PPIP5K2 Yousaf et al., 2018
DFNB101 5q32 GRXCR2 Imtiaz et al., 2014
DFNB102 12p12.3 EPS8 Behlouli et al., 2014
DFNB103 6p21.1 CLIC5 Seco et al., 2015
DFNB104 6p22.3 FAM65B Diaz-Horta et al., 2014
DFNB105 see DFNB32   Delmaghani et al., 2016
DFNB106 11p15.5 EPS8L2 Dahmani et al., 2015
DFNB108 1p31.3 ROR1 Diaz-Horta et al., 2016


Note 1: DFNB5 was reported originally as DFNB4.
Note 2: DFNB9 was reported originally as DFNB6.
Note 3: DFNB26 is suppressed by dominant modifier DFNM1.
Note 4: The gene at the DFNB82 locus was initially reported as GPSM2 by Walsh et al 2010, but this gene was later determined to cause Chudley-McCullough syndrome, see Diaz-Horta et al 2012 and Doherty et al 2012.