KEGG   DISEASE: H00605Help
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; Nervous system disease
BRITE hierarchy
Gene
GJB2 [HSA:2706] [KO:K07621]
GJB6 [HSA:10804] [KO:K07625]
MYO7A [HSA:4647] [KO:K10359]
MYO15 [HSA:51168] [KO:K10361]
SLC26A4 [HSA:5172] [KO:K14702]
TMIE [HSA:259236]
TMC1 [HSA:117531]
TMPRSS3 [HSA:64699] [KO:K09634]
OTOF [HSA:9381]
CDH23 [HSA:64072] [KO:K06813]
STRC [HSA:161497]
USH1C [HSA:10083]
TECTA [HSA:7007] [KO:K18273]
OTOA [HSA:146183]
PCDH15 [HSA:65217] [KO:K16500]
CLDN14 [HSA:23562] [KO:K06087]
MYO3A [HSA:53904] [KO:K08834]
WHRN [HSA:25861]
ESPN [HSA:83715]
MYO6 [HSA:4646] [KO:K10358]
COL11A2 [HSA:1302] [KO:K06236]
GJB3 [HSA:2707] [KO:K07622]
GJA1 [HSA:2697] [KO:K07372]
SLC26A5 [HSA:375611] [KO:K14703]
GRXCR1 [HSA:389207] [KO:K17479]
TRIOBP [HSA:11078]
ESRRB [HSA:2103] [KO:K08553]
HGF [HSA:3082] [KO:K05460]
MARVELD2 [HSA:153562] [KO:K17291]
PJVK [HSA:494513]
LRTOMT [HSA:220074]
LHFPL5 [HSA:222662]
MSRB3 [HSA:253827] [KO:K07305]
LOXHD1 [HSA:125336]
TPRN [HSA:286262]
GPSM2 [HSA:29899] [KO:K15837]
PTPRQ [HSA:374462] [KO:K16910]
SERPINB6 [HSA:5269] [KO:K13963]
RDX [HSA:5962] [KO:K05762]
FGF3 [HSA:2248] [KO:K04358]
Other DBs
Reference
PMID:16650073 (gene)
  Authors
Petersen MB, Willems PJ
  Title
Non-syndromic, autosomal-recessive deafness.
  Journal
Clin Genet 69:371-92 (2006)
Reference
PMID:16446920 (description, gene)
  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)
Reference
PMID:12324385 (gene)
  Authors
Bitner-Glindzicz M
  Title
Hereditary deafness and phenotyping in humans.
  Journal
Br Med Bull 63:73-94 (2002)
Reference
PMID:20137778 (gene)
  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)
Reference
PMID:16385457 (gene)
  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)
Reference
PMID:18179891 (gene)
  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)
Reference
PMID:19576567 (gene)
  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)
Reference
PMID:17186462 (gene)
  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)
Reference
PMID:16804542 (gene)
  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)
Reference
PMID:18953341 (gene)
  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)
Reference
PMID:16752389 (gene)
  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)
Reference
PMID:21185009 (gene)
  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)
Reference
PMID:19732867 (gene)
  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)
Reference
PMID:20170898 (gene)
  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)
Reference
PMID:20602914 (gene)
  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)
Reference
PMID:20346435 (gene)
  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)
Reference
PMID:20451170 (gene)
  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)
Reference
PMID:17226784 (gene)
  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)
Reference
PMID:17236138 (gene)
  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)
Reference
PMID:18435799 (gene)
  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)

» Japanese version

DBGET integrated database retrieval system