Deafness, autosomal dominant

[1]. A Grifa, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet. 1999 Sep;23(1):16-8. [Content Brief]

[2]. C Neuhaus, et al. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). Clin Genet. 2017 Jun;91(6):892-901. [Content Brief]

[3]. Celia Zazo Seco, et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5;97(5):647-60. [Content Brief]

[4]. Dong-Ye Chen, et al. A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. Genet Med. 2017 May;19(5):553-558. [Content Brief]

[5]. E N Manolis, et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet. 1996 Jul;5(7):1047-50. [Content Brief]

[6]. E Verver, et al. R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. Clin Genet. 2015 Jul;88(1):85-9. [Content Brief]

[7]. Flavio Faletra, et al. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene. 2014 Jan 25;534(2):236-9. [Content Brief]

[8]. Francesca Donaudy, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet. 2004 Apr;74(4):770-6. [Content Brief]

[9]. G Richard, et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet. 1998 Oct;103(4):393-9. [Content Brief]

[10]. Giulia Soldà, et al. A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. Hum Mol Genet. 2012 Feb 1;21(3):577-85. [Content Brief]

[11]. Hee-Jin Kim, et al. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One. 2013 Nov 18;8(11):e79063. [Content Brief]

[12]. Hela Azaiez, et al. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar 27;11(3):e1005137. [Content Brief]

[13]. Hela Azaiez, et al. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. [Content Brief]

[14]. Hideki Mutai, et al. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. PLoS Genet. 2020 Apr 15;16(4):e1008643. [Content Brief]

[15]. Hiroshi Nakanishi, et al. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. [Content Brief]

[16]. Honghan Wang, et al. Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. J Hum Genet. 2015 Mar;60(3):119-126. [Content Brief]

[17]. Isabelle Schrauwen, et al. Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Genes (Basel). 2020 Jun 23;11(6):687. [Content Brief]

[18]. Isabelle Schrauwen, et al. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun;27(6):869-878. [Content Brief]

[19]. J H Xia, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. [Content Brief]

[20]. Jameson Arnett, et al. Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. [Content Brief]

[21]. Jeroen J Smits, et al. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Hum Genet. 2019 Jan;138(1):61-72. [Content Brief]

[22]. Jérôme Ruel, et al. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008 Aug;83(2):278-92. [Content Brief]

[23]. Jing Cheng, et al. Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet. 2011 Jul 15;89(1):56-66. [Content Brief]

[24]. Juanjuan Gao, et al. Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. PLoS One. 2015 Jul 21;10(7):e0133522. [Content Brief]

[25]. Justin A Pater, et al. Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Hum Genet. 2022 Apr;141(3-4):431-444. [Content Brief]

[26]. K Verhoeven, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998 May;19(1):60-2. [Content Brief]

[27]. Kevin T Booth, et al. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 Mar;39(3):433-440. [Content Brief]

[28]. Kevin T Booth, et al. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019 Apr;21(4):948-954. [Content Brief]

[29]. Li Wang, et al. A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. Hum Genet. 2018 Jul;137(6-7):437-446. [Content Brief]

[30]. Limei Cui, et al. Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss. JCI Insight. 2020 Dec 3;5(23):e136046. [Content Brief]

[31]. M B Petersen, et al. Non-syndromic autosomal-dominant deafness. Clin Genet. 2002 Jul;62(1):1-13. [Content Brief]

[32]. M Zhu, et al. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov;73(5):1082-91. [Content Brief]

[33]. Maria Bitner-Glindzicz, et al. Hereditary deafness and phenotyping in humans. Br Med Bull. 2002;63:73-94. [Content Brief]

[34]. Meng Li, et al. Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. Genet Med. 2019 Dec;21(12):2744-2754. [Content Brief]

[35]. Mette Nyegaard, et al. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PLoS Genet. 2015 Jul 21;11(7):e1005386. [Content Brief]

[36]. Michaela Thoenes, et al. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis. 2015 Feb 10;10:15. [Content Brief]

[37]. Mieke Wesdorp, et al. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum Genet. 2018 May;137(5):389-400. [Content Brief]

[38]. N Hilgert, et al. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet. 2008 Sep;74(3):223-32. [Content Brief]

[39]. Rainer G Ruf, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. [Content Brief]

[40]. S Melchionda, et al. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001 Sep;69(3):635-40. [Content Brief]

[41]. S W Hone, et al. Genetics of hearing impairment. Semin Neonatol. 2001 Dec;6(6):531-41. [Content Brief]

[42]. S Wayne, et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet. 2001 Feb 1;10(3):195-200. [Content Brief]

[43]. S Xiao, et al. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. [Content Brief]

[44]. Satoko Abe, et al. Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003 Jan;72(1):73-82. [Content Brief]

[45]. Silvia Modamio-Hoybjor, et al. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet. 2007 Jun;80(6):1076-89. [Content Brief]

[46]. T L Young, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet. 2001 Oct 15;10(22):2509-14. [Content Brief]

[47]. Tobias Eisenberger, et al. A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet Med. 2018 Jun;20(6):614-621. [Content Brief]

[48]. W T McGuirt, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999 Dec;23(4):413-9. [Content Brief]

[49]. Wenjun Xia, et al. Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. Clin Genet. 2019 Oct;96(4):300-308. [Content Brief]

[50]. Wu Li, et al. ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. Hum Genet. 2018 Apr;137(4):329-342. [Content Brief]

[51]. X Z Liu, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet. 1997 Nov;17(3):268-9. [Content Brief]

[52]. Xingxing Lu, et al. Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. Eur J Med Genet. 2020 May;63(5):103855. [Content Brief]

[53]. Yali Zhao, et al. Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. PLoS One. 2013 Jul 30;8(7):e69549. [Content Brief]

[54]. Yanchao Han, et al. Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. Hum Mol Genet. 2011 Aug 15;20(16):3213-26. [Content Brief]

[55]. Yoko Nakano, et al. Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. Cell. 2018 Jul 26;174(3):536-548.e21. [Content Brief]

[56]. Zhaoxin Ma, et al. SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Hum Mol Genet. 2017 Jan 15;26(2):383-394. [Content Brief]