KEGG   DISEASE: Deafness, autosomal recessive
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
Related
pathway
hsa04014 Ras signaling pathway   
hsa04020 Calcium signaling pathway   
hsa04015 Rap1 signaling pathway   
hsa04530 Tight junction   
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) MYO15A [HSA:51168] [KO:K10361]
(DFNB4) SLC26A4 [HSA:5172] [KO:K14702]
(DFNB4) FOXI1 [HSA:2299] [KO:K09401]
(DFNB4) KCNJ10 [HSA:3766] [KO:K05003]
(DFNB6) TMIE [HSA:259236] [KO:K23907]
(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]
(DFNB12) ATP2B2 [HSA:491] [KO:K05850]
(DFNB15) GIPC3 [HSA:126326] [KO:K20056]
(DFNB16) STRC [HSA:161497] [KO:K24636]
(DFNB18A) USH1C [HSA:10083] [KO:K21877]
(DFNB18B) OTOG [HSA:340990] [KO:K25030]
(DFNB21) TECTA [HSA:7007] [KO:K18273]
(DFNB22) OTOA [HSA:146183] [KO:K25029]
(DFNB23) PCDH15 [HSA:65217] [KO:K16500]
(DFNB24) RDX [HSA:5962] [KO:K05762]
(DFNB25) GRXCR1 [HSA:389207] [KO:K17479]
(DFNB26) GAB1 [HSA:2549] [KO:K09593]
(DFNB26) METTL13 [HSA:51603] [KO:K25166]
(DFNB28) TRIOBP [HSA:11078] [KO:K23751]
(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] [KO:K24047]
(DFNB37) MYO6 [HSA:4646] [KO:K10358]
(DFNB39) HGF [HSA:3082] [KO:K05460]
(DFNB42) ILDR1 [HSA:286676] [KO:K25781]
(DFNB44) ADCY1 [HSA:107] [KO:K08041]
(DFNB48) CIB2 [HSA:10518] [KO:K23837]
(DFNB49) MARVELD2 [HSA:153562] [KO:K17291]
(DFNB53) COL11A2 [HSA:1302] [KO:K19721]
(DFNB57) PDZD7 [HSA:79955] [KO:K21882]
(DFNB59) PJVK [HSA:494513] [KO:K22147]
(DFNB61) SLC26A5 [HSA:375611] [KO:K14703]
(DFNB63) LRTOMT [HSA:220074] [KO:K00545]
(DFNB66) DCDC2 [HSA:51473] [KO:K23405]
(DFNB67) LHFPL5 [HSA:222662] [KO:K23893]
(DFNB68) S1PR2 [HSA:9294] [KO:K04292]
(DFNB70) PNPT1 [HSA:87178] [KO:K00962]
(DFNB74) MSRB3 [HSA:253827] [KO:K07305]
(DFNB76) SYNE4 [HSA:163183] [KO:K23401]
(DFNB77) LOXHD1 [HSA:125336] [KO:K24822]
(DFNB79) TPRN [HSA:286262] [KO:K24164]
(DFNB82) GPSM2 [HSA:29899] [KO:K15837]
(DFNB84A) PTPRQ [HSA:374462] [KO:K16910]
(DFNB84B) OTOGL [HSA:283310] [KO:K25030]
(DFNB86) TBC1D24 [HSA:57465] [KO:K21841]
(DFNB88) ELMOD3 [HSA:84173] [KO:K23538]
(DFNB89) KARS [HSA:3735] [KO:K04567]
(DFNB91) SERPINB6 [HSA:5269] [KO:K13963]
(DFNB93) CABP2 [HSA:51475] [KO:K23531]
(DFNB94) NARS2 [HSA:79731] [KO:K01893]
(DFNB97) MET [HSA:4233] [KO:K05099]
(DFNB98) TSPEAR [HSA:54084] [KO:K24437]
(DFNB99) TMEM132E [HSA:124842] [KO:K17599]
(DFNB100) PPIP5K2 [HSA:23262] [KO:K13024]
(DFNB101) GRXCR2 [HSA:643226] [KO:K24294]
(DFNB102) EPS8 [HSA:2059] [KO:K17277]
(DFNB103) CLIC5 [HSA:53405] [KO:K05025]
(DFNB104) RIPOR2 [HSA:9750] [KO:K24818]
(DFNB106) EPS8L2 [HSA:64787] [KO:K17277]
(DFNB107) WBP2 [HSA:23558] [KO:K22524]
(DFNB108) ROR1 [HSA:4919] [KO:K05122]
(DFNB109) ESRP1 [HSA:54845] [KO:K14947]
(DFNB110) COCH [HSA:1690] [KO:K23574]
(DFNB111) MPZL2 [HSA:10205]
(DFNB112) BDP1 [HSA:55814] [KO:K15198]
(DFNB113) CEACAM16 [HSA:388551] [KO:K06499]
(DFNB114) GRAP [HSA:10750] [KO:K23694]
(DFNB115) SPNS2 [HSA:124976] [KO:K23677]
(DFNB116) CLDN9 [HSA:9080] [KO:K06087]
(DFNB117) CLRN2 [HSA:645104] [KO:K23841]
(DFNB119) SPATA5L1 [HSA:79029]
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 601869 603720 602092 614945 603629 607039 609533 611022 613285 605428 609823 614035 607101 607084 608653 608565 609006 607821 608265 609646 610154 609439 610153 609706 618003 610220 613865 611451 610212 610265 610419 613718 613079 613307 604213 613391 614944 614617 615429 613453 614899 618434 616705 614861 618481 618422 615837 615974 616042 616515 617637 617639 617654 618013 618094 618145 618257 618410 618456 618457 619093 619174 605429 614934 619615
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
PMID:31160754 (GJB2)
  Authors
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN
  Title
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
  Journal
Genet Med 21:2442-2452 (2019)
DOI:10.1038/s41436-019-0535-9
Reference
PMID:10587579 (GJB3)
  Authors
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE
  Title
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
  Journal
Hum Mol Genet 9:63-7 (2000)
DOI:10.1093/hmg/9.1.63
Reference
PMID:11807148 (GJB6)
  Authors
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F
  Title
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
  Journal
N Engl J Med 346:243-9 (2002)
DOI:10.1056/NEJMoa012052
Reference
PMID:9171832 (MYO7A)
  Authors
Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD
  Title
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
  Journal
Nat Genet 16:188-90 (1997)
DOI:10.1038/ng0697-188
Reference
PMID:11735029 (MYO15A)
  Authors
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB
  Title
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
  Journal
Hum Genet 109:535-41 (2001)
DOI:10.1007/s004390100604
Reference
PMID:9500541 (SLC26A4)
  Authors
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER
  Title
A mutation in PDS causes non-syndromic recessive deafness.
  Journal
Nat Genet 18:215-7 (1998)
DOI:10.1038/ng0398-215
Reference
PMID:17503324 (FOXI1)
  Authors
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ
  Title
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
  Journal
Am J Hum Genet 80:1055-63 (2007)
DOI:10.1086/518314
Reference
PMID:19426954 (KCNJ10)
  Authors
Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ
  Title
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
  Journal
Am J Hum Genet 84:651-7 (2009)
DOI:10.1016/j.ajhg.2009.04.014
Reference
PMID:12145746 (TMIE)
  Authors
Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER
  Title
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
  Journal
Am J Hum Genet 71:632-6 (2002)
DOI:10.1086/342193
Reference
PMID:11850618 (TMC1)
  Authors
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ
  Title
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
  Journal
Nat Genet 30:277-84 (2002)
DOI:10.1038/ng842
Reference
PMID:11137999 (TMPRSS3)
  Authors
Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE
  Title
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
  Journal
Nat Genet 27:59-63 (2001)
DOI:10.1038/83768
Reference
PMID:10192385 (OTOF)
  Authors
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C
  Title
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
  Journal
Nat Genet 21:363-9 (1999)
DOI:10.1038/7693
Reference
PMID:11090341 (CDH23)
  Authors
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ
  Title
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
  Journal
Am J Hum Genet 68:26-37 (2001)
DOI:10.1086/316954
Reference
PMID:15829536 (ATP2B2)
  Authors
Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ
  Title
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
  Journal
N Engl J Med 352:1557-64 (2005)
DOI:10.1056/NEJMoa043899
Reference
PMID:21326233 (GIPC3)
  Authors
Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CR, Oostrik J, Admiraal RJ, Neely HR, Latoche JR, Smith RJ, Northup JK, Kremer H, Holt JR, Noben-Trauth K
  Title
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
  Journal
Nat Commun 2:201 (2011)
DOI:10.1038/ncomms1200
Reference
PMID:11687802 (STRC)
  Authors
Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C
  Title
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
  Journal
Nat Genet 29:345-9 (2001)
DOI:10.1038/ng726
Reference
PMID:12136232 (USH1C)
  Authors
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ
  Title
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
  Journal
Hum Genet 111:26-30 (2002)
DOI:10.1007/s00439-002-0736-0
Reference
PMID:23122587 (OTOG)
  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
PMID:9949200 (TECTA)
  Authors
Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C
  Title
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
  Journal
Hum Mol Genet 8:409-12 (1999)
DOI:10.1093/hmg/8.3.409
Reference
PMID:11972037 (OTOA)
  Authors
Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C
  Title
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in  autosomal recessive deafness DFNB22.
  Journal
Proc Natl Acad Sci U S A 99:6240-5 (2002)
DOI:10.1073/pnas.082515999
Reference
PMID:14570705 (PCDH15)
  Authors
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER
  Title
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
  Journal
Hum Mol Genet 12:3215-23 (2003)
DOI:10.1093/hmg/ddg358
Reference
PMID:17226784 (RDX)
  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
PMID:20137778 (GRXCR1)
  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
PMID:29408807 (GAB1)
  Authors
Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
  Title
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
  Journal
J Clin Invest 128:1509-1522 (2018)
DOI:10.1172/JCI97350
Reference
PMID:11101839 (METTL13)
  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
PMID:16385457 (TRIOBP)
  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
PMID:11163249 (CLDN14)
  Authors
Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB
  Title
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
  Journal
Cell 104:165-72 (2001)
DOI:10.1016/s0092-8674(01)00200-8
Reference
PMID:12032315 (MYO3A)
  Authors
Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB
  Title
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
  Journal
Proc Natl Acad Sci U S A 99:7518-23 (2002)
DOI:10.1073/pnas.102091699
Reference
PMID:11973626 (WHRN)
  Authors
Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C
  Title
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
  Journal
Eur J Hum Genet 10:210-2 (2002)
DOI:10.1038/sj.ejhg.5200780
Reference
PMID:27259055 (CDC14A)
  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
PMID:18179891 (ESRRB)
  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
PMID:15286153 (ESPN)
  Authors
Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB
  Title
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
  Journal
J Med Genet 41:591-5 (2004)
DOI:10.1136/jmg.2004.018523
Reference
PMID:12687499 (MYO6)
  Authors
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER
  Title
Mutations of MYO6 are associated with recessive deafness, DFNB37.
  Journal
Am J Hum Genet 72:1315-22 (2003)
DOI:10.1086/375122
Reference
PMID:19576567 (HGF)
  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
PMID:21255762 (ILDR1)
  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
PMID:24482543 (ADCY1)
  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
PMID:23023331 (CIB2)
  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
PMID:17186462 (MARVELD2)
  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
PMID:16033917 (COL11A2)
  Authors
Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ
  Title
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
  Journal
J Med Genet 42:e61 (2005)
DOI:10.1136/jmg.2005.032615
Reference
PMID:26416264 (PDZD7)
  Authors
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
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PDZD7 and hearing loss: More than just a modifier.
  Journal
Am J Med Genet A 167A:2957-65 (2015)
DOI:10.1002/ajmg.a.37274
Reference
PMID:16804542 (PJVK)
  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
PMID:24164807 (SLC26A5)
  Authors
Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
  Title
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
  Journal
Orphanet J Rare Dis 8:172 (2013)
DOI:10.1186/1750-1172-8-172
Reference
PMID:18953341 (LRTOMT)
  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
PMID:25601850 (DCDC2)
  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
PMID:16752389 (LHFPL5)
  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
PMID:26805784 (S1PR2)
  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
PMID:23084290 (PNPT1)
  Authors
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nurnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nurnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C
  Title
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
  Journal
Am J Hum Genet 91:919-27 (2012)
DOI:10.1016/j.ajhg.2012.09.002
Reference
PMID:21185009 (MSRB3)
  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
PMID:23348741 (SYNE4)
  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
PMID:19732867 (LOXHD1)
  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
PMID:20170898 (TPRN)
  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
PMID:20602914 (GPSM2)
  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
PMID:20346435 (PTPRQ)
  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
PMID:23122586 (OTOGL)
  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
PMID:24387994 (TBC1D24)
  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
PMID:24039609 (ELMOD3)
  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
PMID:23768514 (KARS)
  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
PMID:20451170 (SERPINB6)
  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
PMID:22981119 (CABP2)
  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
PMID:25807530 (NARS2)
  Authors
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S
  Title
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
  Journal
PLoS Genet 11:e1005097 (2015)
DOI:10.1371/journal.pgen.1005097
Reference
PMID:25941349 (MET)
  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
PMID:22678063 (TSPEAR)
  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
PMID:25331638 (TMEM132E)
  Authors
Li J, Zhao X, Xin Q, Shan S, Jiang B, Jin Y, Yuan H, Dai P, Xiao R, Zhang Q, Xiao J, Shao C, Gong Y, Liu Q
  Title
Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
  Journal
Hum Mutat 36:98-105 (2015)
DOI:10.1002/humu.22712
Reference
PMID:29590114 (PPIP5K2)
  Authors
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
  Title
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
  Journal
PLoS Genet 14:e1007297 (2018)
DOI:10.1371/journal.pgen.1007297
Reference
PMID:24619944 (GRXCR2)
  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
PMID:24741995 (EPS8)
  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
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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
PMID:17021174 (CLIC5)
  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
PMID:24958875 (RIPOR2)
  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
Reference
PMID:26282398 (EPS8L2)
  Authors
Dahmani M, Ammar-Khodja F, Bonnet C, Lefevre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C
  Title
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
  Journal
Orphanet J Rare Dis 10:96 (2015)
DOI:10.1186/s13023-015-0316-8
Reference
PMID:26881968 (WBP2)
  Authors
Buniello A, Ingham NJ, Lewis MA, Huma AC, Martinez-Vega R, Varela-Nieto I, Vizcay-Barrena G, Fleck RA, Houston O, Bardhan T, Johnson SL, White JK, Yuan H, Marcotti W, Steel KP
  Title
Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.
  Journal
EMBO Mol Med 8:191-207 (2016)
DOI:10.15252/emmm.201505523
Reference
PMID:27162350 (ROR1)
  Authors
Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M
  Title
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
  Journal
Proc Natl Acad Sci U S A 113:5993-8 (2016)
DOI:10.1073/pnas.1522512113
Reference
PMID:29107558 (ESRP1)
  Authors
Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ
  Title
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
  Journal
Dev Cell 43:318-331.e5 (2017)
DOI:10.1016/j.devcel.2017.09.026
Reference
PMID:29449721 (COCH)
  Authors
JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W
  Title
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
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Eur J Hum Genet 26:587-591 (2018)
DOI:10.1038/s41431-017-0066-2
Reference
PMID:29961571 (MPZL2)
  Authors
Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H
  Title
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
  Journal
Am J Hum Genet 103:74-88 (2018)
DOI:10.1016/j.ajhg.2018.05.011
Reference
PMID:24312468 (BDP1)
  Authors
Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P
  Title
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
  Journal
PLoS One 8:e80323 (2013)
DOI:10.1371/journal.pone.0080323
Reference
PMID:29703829 (CEACAM16)
  Authors
Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ
  Title
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
  Journal
J Med Genet 55:555-560 (2018)
DOI:10.1136/jmedgenet-2018-105349
Reference
PMID:30610177 (GRAP)
  Authors
Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M
  Title
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
  Journal
Proc Natl Acad Sci U S A 116:1347-1352 (2019)
DOI:10.1073/pnas.1810951116
Reference
PMID:30973865 (SPNS2)
  Authors
Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK, Steel KP
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Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
  Journal
PLoS Biol 17:e3000194 (2019)
DOI:10.1371/journal.pbio.3000194
Reference
PMID:31175426 (CLDN9)
  Authors
Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
  Title
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
  Journal
Hum Genet 138:1071-1075 (2019)
DOI:10.1007/s00439-019-02037-1
Reference
PMID:33496845 (CLRN2)
  Authors
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Ruschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H
  Title
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
  Journal
Hum Genet 140:915-931 (2021)
DOI:10.1007/s00439-020-02254-z
Reference
PMID:34626583 (SPATA5L1)
  Authors
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC
  Title
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
  Journal
Am J Hum Genet 108:2006-2016 (2021)
DOI:10.1016/j.ajhg.2021.08.003
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