Autosomal Dominant Nonsyndromic Hearing Loss Loci

Locus (OMIM) Location Gene (OMIM) Key references (Pubmed)
DFNA1 5q31 DIAPH1 Léon et al., 1992Lynch et al., 1997
DFNA2A 1p34 KCNQ4 Coucke et al., 1994,  Kubisch et al., 1999
DFNA2B 1p35.1 GJB3 Xia et al., 1999
DFNA2C   IFNLR1 Gao et al., 2017
DFNA3A 13q11-q12 GJB2 Chaib et al., 1994Denoyelle et al., 1998Kelsell et al., 1997
DFNA3B 13q12 GJB6 Grifa et al., 1999
DFNA4A 19q13 MYH14 Chen et al., 1995Donaudy et al., 2004
DFNA4B 19q13.32 CEACAM16 Zheng et al., 2011
DFNA5 7p15 GSDME  Van Camp et al., 1995,  Van Laer et al., 1998
DFNA6 4p16.3 WFS1 Lesperance et al., 1995Van Camp et al., 1999Bespalova et al., 2001Young et al., 2001
DFNA7 1q21-q23 LMX1A Fagerheim et al., 1996; Wesdorp et al., 2018
DFNA8 see DFNA12    
DFNA9 14q12-q13 COCH Manolis et al., 1996Robertson et al., 1998
DFNA10 6q22-q23 EYA4 O'Neill  et al., 1996Wayne et al., 2001
DFNA11 11q12.3-q21 MYO7A Tamagawa et al., 1996,  Liu et al., 1997
DFNA12 11q22-24  TECTA  
DFNA13 6p21 COL11A2 Brown et al., 1997McGuirt et al., 1999
DFNA14 see DFNA6  

 

 

 

DFNA15 5q31 POU4F3 Vahava et al., 1998
DFNA16 2q24 unknown Fukushima et al., 1999
DFNA17 22q MYH9 Lalwani et al., 1999,  Lalwani et al., 2000
DFNA18

 

3q22

 

unknown

 

Bonsch et al., 2001

 

DFNA19 10 (pericentr.) unknown The Molecular Biology of Hearing and Deafness, Bethesda,October 8-11, 1998 (Green et al., abstract 107)
DFNA20 17q25 ACTG1 Morell et al., 2000Yang et al., 2000Zhu et al., 2003van Wijk et al., 2003Kemperman et al., 2004
DFNA21 6p21 unknown Kunst et al., 2000
DFNA22 6q13 MYO6 Melchionda et al., 2001
DFNA23 14q21-q22 SIX1 Salam et al., 2000 ,  Mosrati et al., 2011
DFNA24 4q unknown Hafner et al., 2000
DFNA25 12q21-24 SLC17A8 Greene et al., 1999Ruel et al., 2008
DFNA26 see DFNA20    
DFNA27 4q12 REST Fridell et al., 1999Peters et al., 2008; Nakano et al., 2018
DFNA28 8q22 GRHL2  Anderson et al., 1999Peters et al., 2002
DFNA30 15q25-26 unknown Mangino et al., 2001
DFNA31 6p21.3 unknown Snoeckx et al., 2004
DFNA32 11p15 unknown Li et al., 2000
DFNA33 13q34-qter unknown Bonsch et al., 2009
DFNA34 1q44 NLRP3 Nakanishi et al., 2017
DFNA36 9q13-q21 TMC1 Kurima et al., 2002
DFNA37 1p21 COL11A1 Booth et al., 2018
DFNA38 see DFNA6

 

 
DFNA39 (see note 1) 4q21.3 DSPP Xiao et al., 2001
DFNA40 16p12.2 CRYM Abe et al., 2003
DFNA41 12q24-qter P2RX2 Blanton et al., 2002 ,  Yan et al., 2013
DFNA42 5q31.1-q32 unknown Xia et al., 2002
DFNA43 2p12 unknown   Flex et al., 2003
DFNA44 3q28-29 CCDC50 Modamio-Hoybjor et al., 2003Modamio-Hoybjor et al., 2007
DFNA47 9p21-22 unknown D'Adamo et al., 2003
DFNA48 12q13-q14 MYO1A D'Adamo et al., 2003Donaudy et al., 2003
DFNA49 1q21-q23 unknown Moreno-Pelayo et al., 2003
DFNA50 7q32.2 MIRN96 Modamio-Hoybjor et al., 2004Mencia et al., 2009
DFNA51 9q21 TJP2 Walsh et al., 2010
DFNA52 4q28 unknown   Xia et al., 2002 
DFNA53 14q11.2-q12 unknown Yan et al., 2005
DFNA54 5q31 unknown Gurtler et al., 2004
DFNA56 9q31.3-q34.3 TNC Zhao et al., 2013
DFNA57 19p13.2 unknown Bonsch et al., 2008
DFNA58 2p12-p21 unknown Lezirovitz et al., 2009
DFNA59 11p14.2-q12.3 unknown Chatterjee et al., 2009
DFNA60 2q21.3-q24.1 unknown Liu XZ et al. ARO meeting. Denver, February 2007.
DFNA64 12q24.31-q24.32 SMAC/DIABLO Cheng et al., 2011
DFNA65 16p13.3 TBC1D24 Azaiez et al., 2014Zhang et al., 2014
DFNA66 6q15-21 CD164 Nyegaard et al., 2015
DFNA67 20q13.33 OSBPL2 Xing et al., 2015; Thoenes et al., 2015
DFNA68 15q25.2 HOMER2 Azaiez et al., 2015
DFNA69 12q21.32-q23.1 KITLG Zazo Seco et al., 2015
DFNA70 3q21.3 MCM2 Gao et al., 2015
DFNA73 12q21.31 PTPRQ Eisenberger et al., 2017

 

Note 1: Mutations in DSPP cause dentinogenesis imperfect associated with hearing impairment in some families.
Note 2: MYO1A has been called in to question as the causative gene for DFNA48, see Eisenberger et al., 2014