KEGG   DISEASE: Deafness, autosomal dominant
Entry
H00604                      Disease                                
Name
Deafness, autosomal dominant
Description
Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. Autosomal-dominant forms of deafness are usually post-lingual and progressive. Dominant mutations may be consistent with initial function and subsequent hearing loss owing to accumulation of pathology.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Ear disease
   H00604  Deafness, autosomal dominant
Human diseases in ICD-11 classification [BR:br08403]
 10 Diseases of the ear or mastoid process
  Disorders with hearing impairment
   AB50  Congenital hearing impairment
    H00604  Deafness, autosomal dominant
Related
pathway
hsa04810 Regulation of actin cytoskeleton   
hsa04510 Focal adhesion   
hsa04530 Tight junction   
Network
nt06506  Double-strand break repair
nt06509  DNA replication
Gene
(DFNA1) DIAPH1 [HSA:1729] [KO:K05740]
(DFNA2A) KCNQ4 [HSA:9132] [KO:K04929]
(DFNA2B) GJB3 [HSA:2707] [KO:K07622]
(DFNA3A) GJB2 [HSA:2706] [KO:K07621]
(DFNA3B) GJB6 [HSA:10804] [KO:K07625]
(DFNA4A) MYH14 [HSA:79784] [KO:K10352]
(DFNA4B) CEACAM16 [HSA:388551] [KO:K06499]
(DFNA5) GSDME [HSA:1687] [KO:K22146]
(DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020]
(DFNA7) LMX1A [HSA:4009] [KO:K09371]
(DFNA8/12) TECTA [HSA:7007] [KO:K18273]
(DFNA9) COCH [HSA:1690] [KO:K23574]
(DFNA10) EYA4 [HSA:2070] [KO:K17622]
(DFNA11) MYO7A [HSA:4647] [KO:K10359]
(DFNA13) COL11A2 [HSA:1302] [KO:K19721]
(DFNA15) POU4F3 [HSA:5459] [KO:K09366]
(DFNA17) MYH9 [HSA:4627] [KO:K10352]
(DFNA20/26) ACTG1 [HSA:71] [KO:K05692]
(DFNA22) MYO6 [HSA:4646] [KO:K10358]
(DFNA23) SIX1 [HSA:6495] [KO:K15614]
(DFNA25) SLC17A8 [HSA:246213] [KO:K12302]
(DFNA27) REST [HSA:5978] [KO:K09222]
(DFNA28) GRHL2 [HSA:79977] [KO:K09275]
(DFNA34) NLRP3 [HSA:114548] [KO:K12800]
(DFNA36) TMC1 [HSA:117531] [KO:K21988]
(DFNA37) COL11A1 [HSA:1301] [KO:K19721]
(DFNA39) DSPP [HSA:1834] [KO:K23573]
(DFNA40) CRYM [HSA:1428] [KO:K18258]
(DFNA41) P2RX2 [HSA:22953] [KO:K05216]
(DFNA44) CCDC50 [HSA:152137] [KO:K25949]
(DFNA50) MIR96 [HSA:407053] [KO:K17114]
(DFNA56) TNC [HSA:3371] [KO:K06252]
(DFNA64) DIABLO [HSA:56616] [KO:K10522]
(DFNA65) TBC1D24 [HSA:57465] [KO:K21841]
(DFNA66) CD164 [HSA:8763] [KO:K06546]
(DFNA67) OSBPL2 [HSA:9885] [KO:K20174]
(DFNA68) HOMER2 [HSA:9455] [KO:K15010]
(DFNA69) KITLG [HSA:4254] [KO:K05461]
(DFNA70) MCM2 [HSA:4171] [KO:K02540]
(DFNA71) DMXL2 [HSA:23312] [KO:K24155]
(DFNA72) SLC44A4 [HSA:80736] [KO:K15377]
(DFNA73) PTPRQ [HSA:374462] [KO:K16910]
(DFNA74) PDE1C [HSA:5137] [KO:K13755]
(DFNA75) TRRAP [HSA:8295] [KO:K08874]
(DFNA76) PLS1 [HSA:5357] [KO:K17275]
(DFNA77) ABCC1 [HSA:4363] [KO:K05665]
(DFNA78) SLC12A2 [HSA:6558] [KO:K10951]
(DFNA79) SCD5 [HSA:79966] [KO:K00507]
(DFNA80) GREB1L [HSA:80000]
(DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
(DFNA82) ATP2B2 [HSA:491] [KO:K05850]
(DFNA83) MAP1B [HSA:4131] [KO:K10429]
(DFNA84) ATP11A [HSA:23250] [KO:K01530]
Other DBs
ICD-11: AB50
ICD-10: H91.9
MeSH: C565121 C567441 C567214 C567277 C567215 C563460 C563410 C563421 C563321 C563335 C563354 C563353 C563295 C566612 C563421 C566545 C565832 C535507 C565267 C565754 C564634 C538197 C565357 C565239 C565319 C563890 C564706 C563888 C564675 C564272 C564246 C564399 C563885 C564322 C564250 C564348 C566495 C567216
OMIM: 124900 600101 612644 601544 612643 600652 614614 600994 600965 601412 601543 601369 601316 601317 601868 602459 603622 604717 606346 605192 605583 612431 608641 606705 605594 616357 608224 607453 613074 615629 614152 616044 616969 616340 616707 616697 616968 617605 617606 617663 618140 618778 618787 618915 617772 618533 619081 619086 619274 619500 619804 619808 619810
Reference
  Authors
Petersen MB
  Title
Non-syndromic autosomal-dominant deafness.
  Journal
Clin Genet 62:1-13 (2002)
DOI:10.1034/j.1399-0004.2002.620101.x
Reference
  Authors
Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
  Title
Molecular genetics of non-syndromic deafness.
  Journal
Braz J Otorhinolaryngol 71:216-23 (2005)
DOI:10.1590/S0034-72992005000200016
Reference
  Authors
Bitner-Glindzicz M
  Title
Hereditary deafness and phenotyping in humans.
  Journal
Br Med Bull 63:73-94 (2002)
DOI:10.1093/bmb/63.1.73
Reference
  Authors
Hone SW, Smith RJ
  Title
Genetics of hearing impairment.
  Journal
Semin Neonatol 6:531-41 (2001)
DOI:10.1053/siny.2001.0094
Reference
PMID:27808407 (DIAPH1)
  Authors
Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ
  Title
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
  Journal
Clin Genet 91:892-901 (2017)
DOI:10.1111/cge.12915
Reference
PMID:21242547 (KCNQ4)
  Authors
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
  Title
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
  Journal
Arch Otolaryngol Head Neck Surg 137:54-9 (2011)
DOI:10.1001/archoto.2010.234
Reference
PMID:9843210 (GJB3)
  Authors
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ
  Title
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
  Journal
Nat Genet 20:370-3 (1998)
DOI:10.1038/3845
Reference
PMID:9856479 (GJB2)
  Authors
Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ
  Title
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
  Journal
Hum Genet 103:393-9 (1998)
DOI:10.1007/s004390050839
Reference
PMID:10471490 (GJB6)
  Authors
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P
  Title
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
  Journal
Nat Genet 23:16-8 (1999)
DOI:10.1038/12612
Reference
PMID:15015131 (MYH14)
  Authors
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A
  Title
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
  Journal
Am J Hum Genet 74:770-6 (2004)
DOI:10.1086/383285
Reference
PMID:25589040 (CEACAM16)
  Authors
Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y
  Title
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
  Journal
J Hum Genet 60:119-126 (2015)
DOI:10.1038/jhg.2014.114
Reference
PMID:29266521 (GSDME)
  Authors
Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ
  Title
Exonic mutations and exon skipping: Lessons learned from DFNA5.
  Journal
Hum Mutat 39:433-440 (2018)
DOI:10.1002/humu.23384
Reference
PMID:11709538 (WFS1)
  Authors
Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC
  Title
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
  Journal
Hum Mol Genet 10:2509-14 (2001)
DOI:10.1093/hmg/10.22.2509
Reference
PMID:29754270 (LMX1A)
  Authors
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H
  Title
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
  Journal
Hum Genet 137:389-400 (2018)
DOI:10.1007/s00439-018-1880-5
Reference
PMID:9590290 (TECTA)
  Authors
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G
  Title
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
  Journal
Nat Genet 19:60-2 (1998)
DOI:10.1038/ng0598-60
Reference
PMID:8817345 (COCH)
  Authors
Manolis EN, Yandavi N, Nadol JB Jr, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG
  Title
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
  Journal
Hum Mol Genet 5:1047-50 (1996)
DOI:10.1093/hmg/5.7.1047
Reference
PMID:11159937 (EYA4)
  Authors
Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ
  Title
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
  Journal
Hum Mol Genet 10:195-200 (2001)
DOI:10.1093/hmg/10.3.195
Reference
PMID:9354784 (MYO7A)
  Authors
Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD
  Title
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
  Journal
Nat Genet 17:268-9 (1997)
DOI:10.1038/ng1197-268
Reference
PMID:10581026 (COL11A2)
  Authors
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
  Title
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
  Journal
Nat Genet 23:413-9 (1999)
DOI:10.1038/70516
Reference
PMID:24260153 (POU4F3)
  Authors
Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
  Title
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
  Journal
PLoS One 8:e79063 (2013)
DOI:10.1371/journal.pone.0079063
Reference
PMID:24890873 (MYH9)
  Authors
Verver E, Pecci A, De Rocco D, Ryhanen S, Barozzi S, Kunst H, Topsakal V, Savoia A
  Title
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
  Journal
Clin Genet 88:85-9 (2015)
DOI:10.1111/cge.12438
Reference
PMID:13680526 (ACTG1)
  Authors
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
  Title
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
  Journal
Am J Hum Genet 73:1082-91 (2003)
DOI:10.1086/379286
Reference
PMID:11468689 (MYO6)
  Authors
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P
  Title
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
  Journal
Am J Hum Genet 69:635-40 (2001)
DOI:10.1086/323156
Reference
PMID:15141091 (SIX1)
  Authors
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F
  Title
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
  Journal
Proc Natl Acad Sci U S A 101:8090-5 (2004)
DOI:10.1073/pnas.0308475101
Reference
PMID:18674745 (SLC17A8)
  Authors
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL
  Title
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
  Journal
Am J Hum Genet 83:278-92 (2008)
DOI:10.1016/j.ajhg.2008.07.008
Reference
PMID:29961578 (REST)
  Authors
Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Banfi B
  Title
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
  Journal
Cell 174:536-548.e21 (2018)
DOI:10.1016/j.cell.2018.06.004
Reference
PMID:21610158 (GRHL2)
  Authors
Han Y, Mu Y, Li X, Xu P, Tong J, Liu Z, Ma T, Zeng G, Yang S, Du J, Meng A
  Title
Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.
  Journal
Hum Mol Genet 20:3213-26 (2011)
DOI:10.1093/hmg/ddr234
Reference
PMID:28847925 (NLRP3)
  Authors
Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ
  Title
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
  Journal
Proc Natl Acad Sci U S A 114:E7766-E7775 (2017)
DOI:10.1073/pnas.1702946114
Reference
PMID:18616530 (TMC1)
  Authors
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G
  Title
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
  Journal
Clin Genet 74:223-32 (2008)
DOI:10.1111/j.1399-0004.2008.01053.x
Reference
PMID:30245514 (COL11A1)
  Authors
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
  Title
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
  Journal
Genet Med 21:948-954 (2019)
DOI:10.1038/s41436-018-0285-0
Reference
PMID:11175790 (DSPP)
  Authors
Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X
  Title
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
  Journal
Nat Genet 27:201-4 (2001)
DOI:10.1038/84848
Reference
PMID:12471561 (CRYM)
  Authors
Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y
  Title
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.
  Journal
Am J Hum Genet 72:73-82 (2003)
DOI:10.1086/345398
Reference
PMID:24211385 (P2RX2)
  Authors
Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
  Title
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.
  Journal
Gene 534:236-9 (2014)
DOI:10.1016/j.gene.2013.10.052
Reference
PMID:17503326 (CCDC50)
  Authors
Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA
  Title
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
  Journal
Am J Hum Genet 80:1076-89 (2007)
DOI:10.1086/518311
Reference
PMID:22038834 (MIR96)
  Authors
Solda G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S
  Title
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.
  Journal
Hum Mol Genet 21:577-85 (2012)
DOI:10.1093/hmg/ddr493
Reference
PMID:23936043 (TNC)
  Authors
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
  Title
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
  Journal
PLoS One 8:e69549 (2013)
DOI:10.1371/journal.pone.0069549
Reference
PMID:21722859 (DIABLO)
  Authors
Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H
  Title
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
  Journal
Am J Hum Genet 89:56-66 (2011)
DOI:10.1016/j.ajhg.2011.05.027
Reference
PMID:24729539 (TBC1D24)
  Authors
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
  Title
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
  Journal
Hum Mutat 35:819-23 (2014)
DOI:10.1002/humu.22557
Reference
PMID:26197441 (CD164)
  Authors
Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Cruger DG, Oostrik J, Kremer H, Tommerup N, Frodin M, Steel KP, Tranebjaerg L, Borglum AD
  Title
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
  Journal
PLoS Genet 11:e1005386 (2015)
DOI:10.1371/journal.pgen.1005386
Reference
PMID:25759012 (OSBPL2)
  Authors
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nurnberg G, Nurnberg P, Steel KP, Knipper M, Bolz HJ
  Title
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
  Journal
Orphanet J Rare Dis 10:15 (2015)
DOI:10.1186/s13023-015-0238-5
Reference
PMID:25816005 (HOMER2)
  Authors
Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ
  Title
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
  Journal
PLoS Genet 11:e1005137 (2015)
DOI:10.1371/journal.pgen.1005137
Reference
PMID:26522471 (KITLG)
  Authors
Zazo Seco C, Serrao de Castro L, van Nierop JW, Morin M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vasquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H
  Title
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
  Journal
Am J Hum Genet 97:647-60 (2015)
DOI:10.1016/j.ajhg.2015.09.011
Reference
PMID:26196677 (MCM2)
  Authors
Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y
  Title
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.
  Journal
PLoS One 10:e0133522 (2015)
DOI:10.1371/journal.pone.0133522
Reference
PMID:27657680 (DMXL2)
  Authors
Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T, Wu H
  Title
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
  Journal
Genet Med 19:553-558 (2017)
DOI:10.1038/gim.2016.142
Reference
PMID:28013291 (SLC44A4)
  Authors
Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D
  Title
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
  Journal
Hum Mol Genet 26:383-394 (2017)
DOI:10.1093/hmg/ddw394
Reference
PMID:29309402 (PTPRQ)
  Authors
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, Toliat M, Nurnberg P, Murbe D, Bolz HJ
  Title
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
  Journal
Genet Med 20:614-621 (2018)
DOI:10.1038/gim.2017.155
Reference
PMID:29860631 (PDE1C)
  Authors
Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X
  Title
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
  Journal
Hum Genet 137:437-446 (2018)
DOI:10.1007/s00439-018-1895-y
Reference
PMID:31231791 (TRRAP)
  Authors
Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D
  Title
Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.
  Journal
Clin Genet 96:300-308 (2019)
DOI:10.1111/cge.13590
Reference
PMID:30872814 (PLS1)
  Authors
Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM
  Title
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
  Journal
Eur J Hum Genet 27:869-878 (2019)
DOI:10.1038/s41431-019-0372-y
Reference
PMID:31273342 (ABCC1)
  Authors
Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y
  Title
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
  Journal
Genet Med 21:2744-2754 (2019)
DOI:10.1038/s41436-019-0594-y
Reference
PMID:32294086 (SLC12A2)
  Authors
Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Kubo M, Matsunaga T
  Title
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
  Journal
PLoS Genet 16:e1008643 (2020)
DOI:10.1371/journal.pgen.1008643
Reference
PMID:31972369 (SCD5)
  Authors
Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y
  Title
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
  Journal
Eur J Med Genet 63:103855 (2020)
DOI:10.1016/j.ejmg.2020.103855
Reference
PMID:32585897 (GREB1L)
  Authors
Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM
  Title
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
  Journal
Genes (Basel) 11:E687 (2020)
DOI:10.3390/genes11060687
Reference
PMID:29713870 (ELMOD3)
  Authors
Li W, Sun J, Ling J, Li J, He C, Liu Y, Chen H, Men M, Niu Z, Deng Y, Li M, Li T, Wen J, Sang S, Li H, Wan Z, Richard EM, Chapagain P, Yan D, Liu XZ, Mei L, Feng Y
  Title
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
  Journal
Hum Genet 137:329-342 (2018)
DOI:10.1007/s00439-018-1885-0
Reference
PMID:30535804 (ATP2B2)
  Authors
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H
  Title
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
  Journal
Hum Genet 138:61-72 (2019)
DOI:10.1007/s00439-018-1965-1
Reference
PMID:33268592 (MAP1B)
  Authors
Cui L, Zheng J, Zhao Q, Chen JR, Liu H, Peng G, Wu Y, Chen C, He Q, Shi H, Yin S, Friedman RA, Chen Y, Guan MX
  Title
Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
  Journal
JCI Insight 5:136046 (2020)
DOI:10.1172/jci.insight.136046
Reference
PMID:35278131 (ATP11A)
  Authors
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
  Title
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
  Journal
Hum Genet 141:431-444 (2022)
DOI:10.1007/s00439-022-02444-x

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