| H00604 | |
| H number | H00604 |
| Name | Deafness, autosomal dominant |
| Description | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. Autosomal-dominant forms of deafness are usually post-lingual and progressive. Dominant mutations may be consistent with initial function and subsequent hearing loss owing to accumulation of pathology. |
| Category | Nervous system disease |
| Network | nt06506(H00604) Double-strand break repair nt06509(H00604) DNA replication nt06528(H00604) Calcium signaling |
| 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] (DFNA81) ELMOD3 [HSA:84173] [KO:K23538] (DFNA82) ATP2B2 [HSA:491] [KO:K05850] (DFNA83) MAP1B [HSA:4131] [KO:K10429] (DFNA84) ATP11A [HSA:23250] [KO:K01530] (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: AB50 ICD-10: H91.9 MeSH: C565121 C567441 C567214 C567277 C567215 C563460 C563410 C563421 C563321 C563335 C563354 C563353 C563295 C566612 C563421 C566545 C565832 C535507 C565267 C565754 C564634 C538197 C565357 C565239 C565319 C563890 C564706 C563888 C564675 C564272 C564246 C564399 C563885 C564322 C564250 C564348 C566495 C567216 OMIM: 124900 600101 612644 601544 612643 600652 614614 600994 600965 601412 601543 601369 601316 601317 601868 602459 603622 604717 606346 605192 605583 612431 608641 606705 605594 616357 608224 607453 613074 615629 614152 616044 616969 616340 616707 616697 616968 617605 617606 617663 618140 618778 618787 618915 617772 618533 619081 619086 619274 619500 619804 619808 619810 620227 620280 620281 620283 620284 |
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JOURNAL Nat Genet 19:60-2 (1998) DOI:10.1038/ng0598-60 PMID:8817345 (COCH) 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 PMID:11159937 (EYA4) 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 PMID:9354784 (MYO7A) 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 PMID:10581026 (COL11A2) 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 PMID:24260153 (POU4F3) 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 PMID:24890873 (MYH9) 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 PMID:13680526 (ACTG1) 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 PMID:11468689 (MYO6) 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 PMID:15141091 (SIX1) 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 PMID:18674745 (SLC17A8) 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. 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JOURNAL Clin Genet 74:223-32 (2008) DOI:10.1111/j.1399-0004.2008.01053.x PMID:30245514 (COL11A1) 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 PMID:11175790 (DSPP) 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 PMID:12471561 (CRYM) 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 PMID:24211385 (P2RX2) 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 PMID:17503326 (CCDC50) 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 PMID:22038834 (MIR96) 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 PMID:23936043 (TNC) 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 PMID:21722859 (DIABLO) 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 PMID:24729539 (TBC1D24) 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 PMID:26197441 (CD164) 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 PMID:25759012 (OSBPL2) 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 PMID:25816005 (HOMER2) 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 PMID:26522471 (KITLG) 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 PMID:26196677 (MCM2) 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 PMID:27657680 (DMXL2) 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 PMID:28013291 (SLC44A4) 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 PMID:29309402 (PTPRQ) 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 PMID:29860631 (PDE1C) 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 PMID:31231791 (TRRAP) 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 PMID:30872814 (PLS1) 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 PMID:31273342 (ABCC1) 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 PMID:32294086 (SLC12A2) 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 PMID:31972369 (SCD5) 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 PMID:32585897 (GREB1L) 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 PMID:29713870 (ELMOD3) 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 PMID:30535804 (ATP2B2) 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 PMID:33268592 (MAP1B) 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 PMID:35278131 (ATP11A) 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 PMID:34059922 (USP48) 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 PMID:32776944 (THOC1) 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 PMID:33358777 (PI4KB) 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 PMID:36048850 (EPHA10) 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 PMID:33111345 (ATOH1) 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 |