Autosomal Dominant Nonsyndromic Hearing Loss

Locus (OMIM)Gene (OMIM)Key Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
help
DFNA1DIAPH1
(see note 1)
Leon et al., 1992Lynch et al., 1997Definitive
DFNA2AKCNQ4Coucke et al., 1994; Van Camp et al., 1997Kubisch et al., 1999Definitive
DFNA2BGJB3Xia et al., 1998Xia et al., 1998Disputed
DFNA3AGJB2Chaïb et al., 1994Kelsell et al., 1997not reviewed
DFNA3BGJB6Grifa et al., 1999Grifa et al., 1999not reviewed
DFNA4AMYH14Chen et al., 1995; Mirghomizadeh et al., 2002Donaudy et al., 2004Moderate
DFNA4BCEACAM16Yang et al., 2005Zheng et al., 2011Moderate
DFNA5GSDME/DFNA5Van Camp et al., 1995; Van Laer et al., 1997Van Laer et al., 1998Definitive
DFNA6/14/38WFS1Lesperance et al., 1995; Van Camp et al., 1999Young et al., 2001Bespalova et al., 2001; Young et al., 2001Definitive
DFNA7LMX1AFagerheim et al., 1996Wesdorp et al., 2018not reviewed
DFNA8/12TECTAVerhoeven et al., 1997Verhoeven et al., 1998Definitive
DFNA9COCHManolis et al., 1996Robertson et al., 1998Definitive
DFNA10EYA4O'Neill et al., 1996Wayne et al., 2001Definitive
DFNA11MYO7ATamagawa et al., 1996Liu et al., 1997Definitive
DFNA13COL11A2Brown et al., 1997McGuirt et al., 1999Definitive
DFNA15POU4F3Vahava et al., 1998Vahava et al., 1998Definitive
DFNA16unknownFukushima et al., 1999n/an/a
DFNA17MYH9
(see note 1)
Lalwani et al., 1999Lalwani et al., 2000Definitive
DFNA18unknownBönsch et al., 2001n/an/a
DFNA20/26ACTG1Morell et al., 2000; Yang et al., 2000; DeWan et al., 2003Zhu et al., 2003Definitive
DFNA21RIPOR2/FAM65BKunst et al., 2000; de Brouwer et al., 2005de Bruijn et al., 2020not reviewed
DFNA22MYO6Melchionda et al., 2001Melchionda et al., 2001Definitive
DFNA23SIX1Salam et al., 2000Mosrati et al., 2011not reviewed
DFNA24unknownHäfner et al., 2000n/an/a
DFNA25SLC17A8Greene et al., 2001; Petek et al., 2003Ruel et al., 2008Strong
DFNA27RESTFridell et al., 1999; Peters et al., 2008Nakano et al., 2018not reviewed
DFNA28GRHL2Anderson et al., 1999Peters et al., 2002Strong
DFNA30unknownMangino et al., 2001n/an/a
DFNA31unknownSnoeckx et al., 2004n/an/a
DFNA32unknownLi et al., 2000n/an/a
DFNA33 (see note 2)unknownBönsch et al., 2009; Vona et al., 2023n/an/a
DFNA34NLRP3Kurima et al., 2000Nakanishi et al., 2017not reviewed
DFNA36TMC1Kurima et al., 2002Kurima et al., 2002Definitive
DFNA37COL11A1Talebizadeh et al., 2000Booth et al., 2019not reviewed
DFNA39
(see note 3)
DSPPXiao et al., 2001Xiao et al., 2001not reviewed
DFNA40CRYMAbe et al., 2003Abe et al., 2003Limited
DFNA41P2RX2Blanton et al., 2002; Yan et al., 2005Yan et al., 2013Moderate
DFNA42/52 (see note 4)unknownXia et al., 2002; Cai et al., 2017n/an/a
DFNA43unknownFlex et al., 2003n/an/a
DFNA44CCDC50Modamio-Høybjør et al., 2003Modamio-Høybjør et al., 2007Limited
DFNA47unknownD'Adamo et al., 2003n/an/a
DFNA48MYO1AD'Adamo et al., 2003Eisenberger et al., 2014Refuted
DFNA49unknownMoreno-Pelayo et al., 2003n/an/a
DFNA50MIR96Modamio-Høybjør et al., 2004Mencía et al., 2009Moderate
DFNA51TJP2Walsh et al., 2010Walsh et al., 2010Limited
DFNA53unknownYan et al., 2006n/an/a
DFNA54unknownGürtler et al., 2004n/an/a
DFNA56TNCZhao et al., 2013Zhao et al., 2013Limited
DFNA57unknownBönsch et al., 2008n/an/a
DFNA58unknownLezirovitz et al., 2009; Lezirovitz et al., 2020; Kobayashi et al., 2023n/an/a
DFNA59unknownChatterjee et al., 2009n/an/a
DFNA60unknownLiu et al., 2007n/an/a
DFNA64DIABLO/SMACCheng et al., 2011Cheng et al., 2011Limited
DFNA65TBC1D24Azaiez et al., 2014; Zhang et al., 2014Azaiez et al., 2014Zhang et al., 2014Limited
DFNA66CD164Nyegaard et al., 2015Nyegaard et al., 2015Limited
DFNA67OSBPL2Thoenes et al., 2015Xing et al., 2015; Thoenes et al., 2015Moderate
DFNA68HOMER2Azaiez et al., 2015Azaiez et al., 2015Moderate
DFNA69KITLGZazo Seco et al., 2015Zazo Seco et al., 2015Limited
DFNA70MCM2Gao et al., 2015Gao et al., 2015Limited
DFNA71DMXL2Chen et al., 2017Chen et al., 2017Limited
DFNA72SLC44A4Ma et al., 2017Ma et al., 2017Limited
DFNA73PTPRQEisenberger et al., 2018Eisenberger et al., 2018not reviewed
DFNA74PDE1CWang et al., 2018Wang et al., 2018not reviewed
DFNA75TRRAPXia et al., 2019Xia et al., 2019not reviewed
DFNA76PLS1Schrauwen et al., 2019Schrauwen et al., 2019not reviewed
DFNA77ABCC1Li et al., 2019Li et al., 2019not reviewed
DFNA78SLC12A2Mutai et al., 2020Mutai et al., 2020not reviewed
DFNA79SCD5Lu et al., 2020Lu et al., 2020not reviewed
DFNA80GREB1LSchrauwen et al., 2018Schrauwen et al., 2018not reviewed
DFNA81ELMOD3Li et al., 2018Li et al., 2018Limited
DFNA82ATP2B2Smits et al., 2019Smits et al., 2019not reviewed
DFNA83MAP1BCui et al., 2020Cui et al., 2020not reviewed
DFNA84ATP11APater et al., 2022Pater et al., 2022not reviewed
DFNA85USP48Bassani et al., 2021Bassani et al., 2021not reviewed
DFNA86THOC1Zhang et al., 2020Zhang et al., 2020not reviewed
DFNA87PI4KBSu et al., 2020Su et al., 2020not reviewed
DFNA88EPHA10Jiang et al., 2011Huang et al., 2023not reviewed
DFNA89ATOH1Brownstein et al., 2020Brownstein et al., 2020not reviewed
DFNA90MYO3AGrati et al., 2016Grati et al., 2016not reviewed
unassignedGJA1Liu et al., 2001Liu et al., 2001Disputed
unassignedESPNDonaudy et al., 2006Donaudy et al., 2006Limited
unassignedMYO1CZadro et al., 2009Zadro et al., 2009Disputed
unassignedTMTC2Runge et al., 2016Runge et al., 2016Disputed
unassignedIFNLR1Gao et al., 2018Gao et al., 2018not reviewed
unassignedNCOA3Salazar-Silva et al., 2021Salazar-Silva et al., 2021not reviewed

n/a = not applicable

Note 1: DIAPH1 and MYH9 were subsequently shown to be associated with syndromic hearing loss.

Note 2: Vona et al., 2023 calls into question the existence of the DFNA33 locus.

Note 3: Mutations in DSPP cause dentinogenesis imperfecta associated with hearing impairment in some families.

Note 4: The existence of the DFNA42/52 locus is refuted by Cai et al., 2017, which identified POU4F3 as the causative gene for the family reported in Xia et al., 2002.