Autosomal Recessive Non-syndromic Hearing Loss Loci

Locus (OMIM) Chrom Location Gene (OMIM) Key reference (Pubmed)
DFNB1A 13q12 GJB2 Guilford et al., 1994Kelsell et al., 1997
DFNB1B 13q12 GJB6 Del Castillo et al., 2002
DFNB2 11q13.5 MYO7A Guilford et al., 1994Liu et al., 1997;Weil et al., 1997
DFNB3 17p11.2 MYO15A Friedman et al., 1995Wang et al., 1998
DFNB4 7q31 SLC26A4 Baldwin et al., 1995Li et al., 1998
DFNB5 (see note 1) 14q12 unknown Fukushima et al., 1995
DFNB6 3p14-p21 TMIE Fukushima et al., 1995Naz et al, 2002
DFNB7/11 9q13-q21 TMC1 Jain et al., 1995Scott et al., 1996Kurima et al., 2002
DFNB8/10 21q22 TMPRSS3 Veske et al., 1996Bonné-Tamir et al., 1996Scott et al., 2001
DFNB9 (see note 2) 2p22-p23 OTOF Chaib et al., 1996Yasunaga et al., 1999
DFNB10 see DFNB8    
DFNB11 see DFNB7    
DFNB12 10q21-q22 CDH23 Chaib et al., 1996Bork et al., 2001
DFNB13 7q34-36 unknown Mustapha et al., 1998
DFNB14 7q31 unknown Mustapha et al., 1998
DFNB15/72/95 3q21-q25
19p13
GIPC3 Chen et al., 1997 Charizopoulou et al., 2011Rehman et al., 2011
DFNB16 15q21-q22 STRC

Campbell et al., 1997Verpy et al., 2001

DFNB17 7q31 unknown Greinwald et al., 1998
DFNB18 11p14-15.1 USH1C Jain et al., 1998Ouyang et al., 2002Ahmed 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 unknown Riazuddin et al., 2000
DFNB27 2q23-q31 unknown Pulleyn et al., 2000
DFNB28 22q13 TRIOBP Walsh et al., 2000;Shahin et al, 2006Riazuddin 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., 2002Mburu et al., 2003
DFNB32/105 1p13.3-22.1 CDC14A Masmoudi et al., 2003Imtiaz et al., 2017
DFNB33 9q34.3 unknown Medlej-Hashim et al., 2002
DFNB35 14q24.1-24.3 ESRRB Ansar et al., 2003Collin 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., 2005Borck et al., 2011
DFNB44 7p14.1-q11.22 ADCY1 Ansar et al., 2004Santos-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., 2004Riazuddin et al., 2006Girotto 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., 2008Ahmed 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., 2005Shabbir et al., 2006Kalay et al., 2006
DFNB68 19p13.2 S1PR2 Santos et al., 2006Santos-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., 2009Ahmed 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., 2010Yariz et al., 2012
DFNB85 17p12-q11.2 unknown Shahin et al., 2010
DFNB86 16p13.3 TBC1D24 Ali et al., 2012  Rehman 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.