KEGG DISEASE: Deafness, autosomal dominant

DISEASE: Deafness, autosomal dominant

Entry

H00604                      Disease

Name

Deafness, autosomal dominant

Subgroup

Bilateral sudden sensorineural hearing loss [DS:H01705]

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 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
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H00604  Deafness, autosomal dominant
Replication and repair
  nt06509  DNA replication
   H00604  Deafness, autosomal dominant
  nt06506  Double-strand break repair
   H00604  Deafness, autosomal dominant
Signal transduction
  nt06528  Calcium signaling
   H00604  Deafness, autosomal dominant
Cellular process
  nt06535  Efferocytosis
   H00604  Deafness, autosomal dominant
  nt06539  Cytoskeleton in muscle cells
   H00604  Deafness, autosomal dominant
Immune system
  nt06521  NLR signaling
   H00604  Deafness, autosomal dominant

Pathway

hsa04020

Calcium signaling pathway

hsa04820

Cytoskeleton in muscle cells

Network

nt06506 Double-strand break repair
nt06509 DNA replication
nt06521 NLR signaling
nt06528 Calcium signaling
nt06535 Efferocytosis
nt06538 Cobalamin transport and metabolism
nt06539 Cytoskeleton in muscle cells

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] [KO:K27478]
(DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
(DFNA82) ATP2B2 [HSA:491] [KO:K05850]
(DFNA83) MAP1B [HSA:4131] [KO:K10429]
(DFNA84) ATP11A [HSA:23250] [KO:K26934]
(DFNA85) USP48 [HSA:84196] [KO:K11858]
(DFNA86) THOC1 [HSA:9984] [KO:K12878]
(DFNA87) PI4KB [HSA:5298] [KO:K19801]
(DFNA88) EPHA10 [HSA:284656] [KO:K08897]
(DFNA89) ATOH1 [HSA:474] [KO:K09083]
(DFNA90) MYO3A [HSA:53904] [KO:K08834]

Other DBs

ICD-11:

AB50

ICD-10:

H91.9

Reference

PMID:12123480

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

PMID:16446920

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

PMID:12324385

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

PMID:12014894

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 (DFNA1)

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 (DFNA2A)

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 (DFNA2B)

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 (DFNA3A)

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 (DFNA3B)

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 (DFNA4A)

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 (DFNA4B)

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 (DFNA5)

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 (DFNA6/14/38)

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 (DFNA7)

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 (DFNA8/12)

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 (DFNA9)

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 (DFNA10)

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 (DFNA11)

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 (DFNA13)

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 (DFNA15)

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 (DFNA17)

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 (DFNA20/26)

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 (DFNA22)

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 (DFNA23)

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 (DFNA25)

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 (DFNA27)

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 (DFNA28)

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 (DFNA34)

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 (DFNA36)

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 (DFNA37)

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 (DFNA39)

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 (DFNA40)

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 (DFNA41)

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 (DFNA44)

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 (DFNA50)

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 (DFNA56)

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 (DFNA64)

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 (DFNA65)

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 (DFNA66)

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 (DFNA67)

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 (DFNA68)

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 (DFNA69)

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 (DFNA70)

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 (DFNA71)

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 (DFNA72)

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 (DFNA73)

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 (DFNA74)

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 (DFNA75)

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 (DFNA76)

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 (DFNA77)

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 (DFNA78)

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 (DFNA79)

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 (DFNA80)

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 (DFNA81)

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 (DFNA82)

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 (DFNA83)

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 (DFNA84)

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

Reference

PMID:34059922 (DFNA85)

Authors

Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A

Title

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Journal

Hum Mol Genet 30:1785-1796 (2021)
DOI:10.1093/hmg/ddab145

Reference

PMID:32776944 (DFNA86)

Authors

Zhang L, Gao Y, Zhang R, Sun F, Cheng C, Qian F, Duan X, Wei G, Sun C, Pang X, Chen P, Chai R, Yang T, Wu H, Liu D

Title

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.

Journal

PLoS Genet 16:e1008953 (2020)
DOI:10.1371/journal.pgen.1008953

Reference

PMID:33358777 (DFNA87)

Authors

Su X, Feng Y, Rahman SA, Wu S, Li G, Ruschendorf F, Zhao L, Cui H, Liang J, Fang L, Hu H, Froehler S, Yu Y, Patone G, Hummel O, Chen Q, Raile K, Luft FC, Bahring S, Hussain K, Chen W, Zhang J, Gong M

Title

Phosphatidylinositol 4-kinase beta mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Journal

J Genet Genomics 47:618-626 (2020)
DOI:10.1016/j.jgg.2020.07.008

Reference

PMID:36048850 (DFNA88)

Authors

Huang S, Ma L, Liu X, He C, Li J, Hu Z, Jiang L, Liu Y, Liu X, Feng Y, Cai X

Title

A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.

Journal

Hum Mol Genet 32:720-731 (2023)
DOI:10.1093/hmg/ddac223

Reference

PMID:33111345 (DFNA89)

Authors

Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthorsson AO, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB

Title

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Journal

Clin Genet 98:353-364 (2020)
DOI:10.1111/cge.13817

Reference

PMID:29880844 (DFNA90)

Authors

Dantas VGL, Raval MH, Ballesteros A, Cui R, Gunther LK, Yamamoto GL, Alves LU, Bueno AS, Lezirovitz K, Pirana S, Mendes BCA, Yengo CM, Kachar B, Mingroni-Netto RC

Title

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Journal

Sci Rep 8:8706 (2018)
DOI:10.1038/s41598-018-26818-2

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