KEGG   DISEASE: Deafness, autosomal recessiveHelp
Entry
H00605                      Disease                                

Name
Deafness, autosomal recessive
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. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Ear disease
   H00605  Deafness, autosomal recessive
Human diseases in ICD-11 classification [BR:br08403]
 10 Diseases of the ear or mastoid process
  Disorders with hearing impairment
   AB50  Congenital hearing impairment
    H00605  Deafness, autosomal recessive
BRITE hierarchy
Gene
(DFNB1A) GJB2 [HSA:2706] [KO:K07621]
(DFNB1A) GJB3 [HSA:2707] [KO:K07622]
(DFNB1B) GJB6 [HSA:10804] [KO:K07625]
(DFNB2) MYO7A [HSA:4647] [KO:K10359]
(DFNB3) MYO15 [HSA:51168] [KO:K10361]
(DFNB4) SLC26A4 [HSA:5172] [KO:K14702]
(DFNB6) TMIE [HSA:259236]
(DFNB7/11) TMC1 [HSA:117531] [KO:K21988]
(DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634]
(DFNB9) OTOF [HSA:9381] [KO:K19949]
(DFNB12) CDH23 [HSA:64072] [KO:K06813]
(DFNB16) STRC [HSA:161497]
(DFNB18A) USH1C [HSA:10083] [KO:K21877]
(DFNB18B) OTOG [HSA:340990]
(DFNB21) TECTA [HSA:7007] [KO:K18273]
(DFNB22) OTOA [HSA:146183]
(DFNB23) PCDH15 [HSA:65217] [KO:K16500]
(DFNB24) RDX [HSA:5962] [KO:K05762]
(DFNB25) GRXCR1 [HSA:389207] [KO:K17479]
(DFNB26) GAB1 [HSA:2549] [KO:K09593]
(DFNB28) TRIOBP [HSA:11078]
(DFNB29) CLDN14 [HSA:23562] [KO:K06087]
(DFNB30) MYO3A [HSA:53904] [KO:K08834]
(DFNB31) WHRN [HSA:25861] [KO:K21879]
(DFNB32) CDC14A [HSA:8556] [KO:K06639]
(DFNB35) ESRRB [HSA:2103] [KO:K08553]
(DFNB36) ESPN [HSA:83715]
(DFNB37) MYO6 [HSA:4646] [KO:K10358]
(DFNB39) HGF [HSA:3082] [KO:K05460]
(DFNB42) ILDR1 [HSA:286676]
(DFNB44) ADCY1 [HSA:107] [KO:K08041]
(DFNB48) CIB2 [HSA:10518]
(DFNB49) MARVELD2 [HSA:153562] [KO:K17291]
(DFNB53) COL11A2 [HSA:1302] [KO:K19721]
(DFNB59) PJVK [HSA:494513] [KO:K22147]
(DFNB61) SLC26A5 [HSA:375611] [KO:K14703]
(DFNB63) LRTOMT [HSA:220074] [KO:K00545]
(DFNB66) DCDC2 [HSA:51473]
(DFNB67) LHFPL5 [HSA:222662]
(DFNB68) S1PR2 [HSA:9294] [KO:K04292]
(DFNB74) MSRB3 [HSA:253827] [KO:K07305]
(DFNB76) SYNE4 [HSA:163183]
(DFNB77) LOXHD1 [HSA:125336]
(DFNB79) TPRN [HSA:286262]
(DFNB82) GPSM2 [HSA:29899] [KO:K15837]
(DFNB84A) PTPRQ [HSA:374462] [KO:K16910]
(DFNB84B) OTOGL [HSA:283310]
(DFNB86) TBC1D24 [HSA:57465] [KO:K21841]
(DFNB88) ELMOD3 [HSA:84173]
(DFNB89) KARS [HSA:3735] [KO:K04567]
(DFNB91) SERPINB6 [HSA:5269] [KO:K13963]
(DFNB93) CABP2 [HSA:51475]
(DFNB97) MET [HSA:4233] [KO:K05099]
(DFNB98) TSPEAR [HSA:54084]
(DFNB101) GRXCR2 [HSA:643226]
(DFNB102) EPS8 [HSA:2059] [KO:K17277]
(DFNB103) CLIC5 [HSA:53405] [KO:K05025]
(DFNB104) RIPOR2 [HSA:9750]
Other DBs
ICD-11: AB50
ICD-10: H91.9
MeSH: C567134 C567213 C564007 C563961 C566366 C563444 C563418 C563417 C563396 C565341 C563417 C563327 C566410 C566344 C566611 C566339 C566418 C566580 C565828 C566353 C564633 C563705 C567027 C565329 C565287
OMIM: 220290 612645 600060 600316 600791 600971 600974 601072 601071 605316 601386 603720 602092 614945 603629 607039 609533 611022 613285 605428 609823 614035 607101 607084 608653 608565 609006 607821 608265 609646 610154 609439 610153 609706 610220 613865 611451 610212 610265 610419 613718 613079 613307 604213 613391 614944 614617 615429 613453 614899 616705 614861 615837 615974 616042 616515
Reference
  Authors
Petersen MB, Willems PJ
  Title
Non-syndromic, autosomal-recessive deafness.
  Journal
Clin Genet 69:371-92 (2006)
DOI:10.1111/j.1399-0004.2006.00613.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
Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H
  Title
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
  Journal
Am J Hum Genet 86:138-47 (2010)
DOI:10.1016/j.ajhg.2009.12.017
Reference
  Authors
Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB
  Title
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
  Journal
Am J Hum Genet 78:137-43 (2006)
DOI:10.1086/499164
Reference
  Authors
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
  Title
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
  Journal
Am J Hum Genet 82:125-38 (2008)
DOI:10.1016/j.ajhg.2007.09.008
Reference
  Authors
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ
  Title
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
  Journal
Am J Hum Genet 85:25-39 (2009)
DOI:10.1016/j.ajhg.2009.06.003
Reference
  Authors
Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB
  Title
Tricellulin is a tight-junction protein necessary for hearing.
  Journal
Am J Hum Genet 79:1040-51 (2006)
DOI:10.1086/510022
Reference
  Authors
Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C
  Title
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
  Journal
Nat Genet 38:770-8 (2006)
DOI:10.1038/ng1829
Reference
  Authors
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H
  Title
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
  Journal
Nat Genet 40:1335-40 (2008)
DOI:10.1038/ng.245
Reference
  Authors
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
  Title
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
  Journal
Hum Mutat 27:633-9 (2006)
DOI:10.1002/humu.20368
Reference
  Authors
Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S
  Title
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
  Journal
Am J Hum Genet 88:19-29 (2011)
DOI:10.1016/j.ajhg.2010.11.010
Reference
  Authors
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Muller U
  Title
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
  Journal
Am J Hum Genet 85:328-37 (2009)
DOI:10.1016/j.ajhg.2009.07.017
Reference
  Authors
Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
  Title
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
  Journal
Am J Hum Genet 86:479-84 (2010)
DOI:10.1016/j.ajhg.2010.02.003
Reference
  Authors
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M
  Title
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
  Journal
Am J Hum Genet 87:90-4 (2010)
DOI:10.1016/j.ajhg.2010.05.010
Reference
  Authors
Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H
  Title
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
  Journal
Am J Hum Genet 86:604-10 (2010)
DOI:10.1016/j.ajhg.2010.02.015
Reference
  Authors
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgoz-Yilmaz S, Hismi B, Ozdag H, Ozturk B, Kulaksizoglu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M
  Title
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
  Journal
Am J Hum Genet 86:797-804 (2010)
DOI:10.1016/j.ajhg.2010.04.004
Reference
  Authors
Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S
  Title
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
  Journal
Hum Mutat 28:417-23 (2007)
DOI:10.1002/humu.20469
Reference
  Authors
Tekin M, Hismi BO, Fitoz S, Ozdag H, Cengiz FB, Sirmaci A, Aslan I, Inceoglu B, Yuksel-Konuk EB, Yilmaz ST, Yasun O, Akar N
  Title
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
  Journal
Am J Hum Genet 80:338-44 (2007)
DOI:10.1086/510920
Reference
  Authors
Tekin M, Ozturkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroglu L, Incesulu A, Yuksel Konuk EB, Hasanefendioglu Bayrak A, Senturk S, Cebeci I, Utine GE, Tuncbilek E, Nance WE, Duman D
  Title
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
  Journal
Clin Genet 73:554-65 (2008)
DOI:10.1111/j.1399-0004.2008.01004.x
Reference
  Authors
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER
  Title
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
  Journal
Nat Genet 26:431-4 (2000)
DOI:10.1038/82558
Reference
  Authors
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C
  Title
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
  Journal
Am J Hum Genet 98:1266-1270 (2016)
DOI:10.1016/j.ajhg.2016.04.015
Reference
  Authors
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nurnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nurnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Muller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C
  Title
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
  Journal
Am J Hum Genet 88:127-37 (2011)
DOI:10.1016/j.ajhg.2010.12.011
Reference
  Authors
Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM
  Title
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
  Journal
Hum Mol Genet 23:3289-98 (2014)
DOI:10.1093/hmg/ddu042
Reference
  Authors
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
  Title
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
  Journal
Nat Genet 44:1265-71 (2012)
DOI:10.1038/ng.2426
Reference
  Authors
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S
  Title
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
  Journal
Hum Mol Genet 24:2482-91 (2015)
DOI:10.1093/hmg/ddv009
Reference
  Authors
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, Riazuddin S, Ahmad W, Friedman TB, Leal SM
  Title
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
  Journal
Am J Hum Genet 98:331-8 (2016)
DOI:10.1016/j.ajhg.2015.12.004
Reference
  Authors
Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB
  Title
The LINC complex is essential for hearing.
  Journal
J Clin Invest 123:740-50 (2013)
DOI:10.1172/JCI66911
Reference
  Authors
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M
  Title
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
  Journal
Am J Hum Genet 91:872-82 (2012)
DOI:10.1016/j.ajhg.2012.09.011
Reference
  Authors
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Dominguez-Ruiz M, Garcia-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H
  Title
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
  Journal
Am J Hum Genet 91:883-9 (2012)
DOI:10.1016/j.ajhg.2012.09.012
Reference
  Authors
Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB
  Title
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
  Journal
Am J Hum Genet 94:144-52 (2014)
DOI:10.1016/j.ajhg.2013.12.004
Reference
  Authors
Jaworek TJ, Richard EM, Ivanova AA, Giese AP, Choo DI, Khan SN, Riazuddin S, Kahn RA, Riazuddin S
  Title
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
  Journal
PLoS Genet 9:e1003774 (2013)
DOI:10.1371/journal.pgen.1003774
Reference
  Authors
Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM
  Title
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
  Journal
Am J Hum Genet 93:132-40 (2013)
DOI:10.1016/j.ajhg.2013.05.018
Reference
  Authors
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G
  Title
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
  Journal
Am J Hum Genet 91:636-45 (2012)
DOI:10.1016/j.ajhg.2012.08.018
Reference
  Authors
Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S
  Title
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
  Journal
J Med Genet 52:548-52 (2015)
DOI:10.1136/jmedgenet-2015-103023
Reference
  Authors
Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C
  Title
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
  Journal
Hum Mol Genet 21:3835-44 (2012)
DOI:10.1093/hmg/dds212
Reference
  Authors
Imtiaz A, Kohrman DC, Naz S
  Title
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.
  Journal
Hum Mutat 35:618-24 (2014)
DOI:10.1002/humu.22545
Reference
  Authors
Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C
  Title
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
  Journal
Orphanet J Rare Dis 9:55 (2014)
DOI:10.1186/1750-1172-9-55
Reference
  Authors
Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR
  Title
The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.
  Journal
J Neurosci 26:10188-98 (2006)
DOI:10.1523/JNEUROSCI.2166-06.2006
Reference
  Authors
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M
  Title
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
  Journal
Proc Natl Acad Sci U S A 111:9864-8 (2014)
DOI:10.1073/pnas.1401950111

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