KEGG   DISEASE: Deafness, autosomal dominantHelp
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
BRITE hierarchy
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]
(DFNA8/12) TECTA [HSA:7007] [KO:K18273]
(DFNA9) COCH [HSA:1690]
(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]
(DFNA28) GRHL2 [HSA:79977] [KO:K09275]
(DFNA36) TMC1 [HSA:117531] [KO:K21988]
(DFNA39) DSPP [HSA:1834]
(DFNA40) CRYM [HSA:1428] [KO:K18258]
(DFNA41) P2RX2 [HSA:22953] [KO:K05216]
(DFNA44) CCDC50 [HSA:152137]
(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]
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 601543 601369 601316 601317 601868 602459 603622 604717 606346 605192 605583 608641 606705 605594 616357 608224 607453 613074 615629 614152 616044 616969 616340 616707 616697 616968
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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  Authors
Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P
  Title
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
  Journal
Am J Hum Genet 72:1571-7 (2003)
DOI:10.1086/375654
Reference
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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

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