| H00604 | |
| H番号 | H00604 |
| 名称 | 遺伝性難聴 (常染色体優性) |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06506(H00604) Double-strand break repair nt06509(H00604) DNA replication nt06528(H00604) Calcium signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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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Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM タイトル Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. 雑誌 Arch Otolaryngol Head Neck Surg 137:54-9 (2011) DOI:10.1001/archoto.2010.234 PMID:9843210 (GJB3) 著者 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 タイトル Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 雑誌 Nat Genet 20:370-3 (1998) DOI:10.1038/3845 PMID:9856479 (GJB2) 著者 Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ タイトル Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 雑誌 Hum Genet 103:393-9 (1998) DOI:10.1007/s004390050839 PMID:10471490 (GJB6) 著者 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 タイトル Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 雑誌 Nat Genet 23:16-8 (1999) DOI:10.1038/12612 PMID:15015131 (MYH14) 著者 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 タイトル Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 雑誌 Am J Hum Genet 74:770-6 (2004) DOI:10.1086/383285 PMID:25589040 (CEACAM16) 著者 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 タイトル Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 雑誌 J Hum Genet 60:119-126 (2015) DOI:10.1038/jhg.2014.114 PMID:29266521 (GSDME) 著者 Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ タイトル Exonic mutations and exon skipping: Lessons learned from DFNA5. 雑誌 Hum Mutat 39:433-440 (2018) DOI:10.1002/humu.23384 PMID:11709538 (WFS1) 著者 Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC タイトル Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. 雑誌 Hum Mol Genet 10:2509-14 (2001) DOI:10.1093/hmg/10.22.2509 PMID:29754270 (LMX1A) 著者 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 タイトル Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. 雑誌 Hum Genet 137:389-400 (2018) DOI:10.1007/s00439-018-1880-5 PMID:9590290 (TECTA) 著者 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 タイトル Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. 雑誌 Nat Genet 19:60-2 (1998) DOI:10.1038/ng0598-60 PMID:8817345 (COCH) 著者 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 タイトル A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. 雑誌 Hum Mol Genet 5:1047-50 (1996) DOI:10.1093/hmg/5.7.1047 PMID:11159937 (EYA4) 著者 Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ タイトル Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. 雑誌 Hum Mol Genet 10:195-200 (2001) DOI:10.1093/hmg/10.3.195 PMID:9354784 (MYO7A) 著者 Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD タイトル Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 雑誌 Nat Genet 17:268-9 (1997) DOI:10.1038/ng1197-268 PMID:10581026 (COL11A2) 著者 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 タイトル Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 雑誌 Nat Genet 23:413-9 (1999) DOI:10.1038/70516 PMID:24260153 (POU4F3) 著者 Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW タイトル SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 雑誌 PLoS One 8:e79063 (2013) DOI:10.1371/journal.pone.0079063 PMID:24890873 (MYH9) 著者 Verver E, Pecci A, De Rocco D, Ryhanen S, Barozzi S, Kunst H, Topsakal V, Savoia A タイトル R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 雑誌 Clin Genet 88:85-9 (2015) DOI:10.1111/cge.12438 PMID:13680526 (ACTG1) 著者 Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH タイトル Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 雑誌 Am J Hum Genet 73:1082-91 (2003) DOI:10.1086/379286 PMID:11468689 (MYO6) 著者 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 タイトル MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. 雑誌 Am J Hum Genet 69:635-40 (2001) DOI:10.1086/323156 PMID:15141091 (SIX1) 著者 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 タイトル SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 雑誌 Proc Natl Acad Sci U S A 101:8090-5 (2004) DOI:10.1073/pnas.0308475101 PMID:18674745 (SLC17A8) 著者 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 タイトル Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. 雑誌 Am J Hum Genet 83:278-92 (2008) DOI:10.1016/j.ajhg.2008.07.008 PMID:29961578 (REST) 著者 Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Banfi B タイトル Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. 雑誌 Cell 174:536-548.e21 (2018) DOI:10.1016/j.cell.2018.06.004 PMID:21610158 (GRHL2) 著者 Han Y, Mu Y, Li X, Xu P, Tong J, Liu Z, Ma T, Zeng G, Yang S, Du J, Meng A タイトル Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. 雑誌 Hum Mol Genet 20:3213-26 (2011) DOI:10.1093/hmg/ddr234 PMID:28847925 (NLRP3) 著者 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 タイトル NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. 雑誌 Proc Natl Acad Sci U S A 114:E7766-E7775 (2017) DOI:10.1073/pnas.1702946114 PMID:18616530 (TMC1) 著者 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 タイトル Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 雑誌 Clin Genet 74:223-32 (2008) DOI:10.1111/j.1399-0004.2008.01053.x PMID:30245514 (COL11A1) 著者 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 タイトル Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. 雑誌 Genet Med 21:948-954 (2019) DOI:10.1038/s41436-018-0285-0 PMID:11175790 (DSPP) 著者 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 タイトル Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 雑誌 Nat Genet 27:201-4 (2001) DOI:10.1038/84848 PMID:12471561 (CRYM) 著者 Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y タイトル Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. 雑誌 Am J Hum Genet 72:73-82 (2003) DOI:10.1086/345398 PMID:24211385 (P2RX2) 著者 Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P タイトル A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 雑誌 Gene 534:236-9 (2014) DOI:10.1016/j.gene.2013.10.052 PMID:17503326 (CCDC50) 著者 Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA タイトル A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. 雑誌 Am J Hum Genet 80:1076-89 (2007) DOI:10.1086/518311 PMID:22038834 (MIR96) 著者 Solda G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S タイトル A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. 雑誌 Hum Mol Genet 21:577-85 (2012) DOI:10.1093/hmg/ddr493 PMID:23936043 (TNC) 著者 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 タイトル Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 雑誌 PLoS One 8:e69549 (2013) DOI:10.1371/journal.pone.0069549 PMID:21722859 (DIABLO) 著者 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 タイトル Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. 雑誌 Am J Hum Genet 89:56-66 (2011) DOI:10.1016/j.ajhg.2011.05.027 PMID:24729539 (TBC1D24) 著者 Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ タイトル TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 雑誌 Hum Mutat 35:819-23 (2014) DOI:10.1002/humu.22557 PMID:26197441 (CD164) 著者 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 タイトル A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. 雑誌 PLoS Genet 11:e1005386 (2015) DOI:10.1371/journal.pgen.1005386 PMID:25759012 (OSBPL2) 著者 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 タイトル OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 雑誌 Orphanet J Rare Dis 10:15 (2015) DOI:10.1186/s13023-015-0238-5 PMID:25816005 (HOMER2) 著者 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 タイトル HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 雑誌 PLoS Genet 11:e1005137 (2015) DOI:10.1371/journal.pgen.1005137 PMID:26522471 (KITLG) 著者 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 タイトル Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 雑誌 Am J Hum Genet 97:647-60 (2015) DOI:10.1016/j.ajhg.2015.09.011 PMID:26196677 (MCM2) 著者 Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y タイトル Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 雑誌 PLoS One 10:e0133522 (2015) DOI:10.1371/journal.pone.0133522 PMID:27657680 (DMXL2) 著者 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 タイトル A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 雑誌 Genet Med 19:553-558 (2017) DOI:10.1038/gim.2016.142 PMID:28013291 (SLC44A4) 著者 Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D タイトル SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. 雑誌 Hum Mol Genet 26:383-394 (2017) DOI:10.1093/hmg/ddw394 PMID:29309402 (PTPRQ) 著者 Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, Toliat M, Nurnberg P, Murbe D, Bolz HJ タイトル A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. 雑誌 Genet Med 20:614-621 (2018) DOI:10.1038/gim.2017.155 PMID:29860631 (PDE1C) 著者 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 タイトル A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 雑誌 Hum Genet 137:437-446 (2018) DOI:10.1007/s00439-018-1895-y PMID:31231791 (TRRAP) 著者 Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D タイトル Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. 雑誌 Clin Genet 96:300-308 (2019) DOI:10.1111/cge.13590 PMID:30872814 (PLS1) 著者 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 タイトル Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. 雑誌 Eur J Hum Genet 27:869-878 (2019) DOI:10.1038/s41431-019-0372-y PMID:31273342 (ABCC1) 著者 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 タイトル Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. 雑誌 Genet Med 21:2744-2754 (2019) DOI:10.1038/s41436-019-0594-y PMID:32294086 (SLC12A2) 著者 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 タイトル Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. 雑誌 PLoS Genet 16:e1008643 (2020) DOI:10.1371/journal.pgen.1008643 PMID:31972369 (SCD5) 著者 Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y タイトル Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. 雑誌 Eur J Med Genet 63:103855 (2020) DOI:10.1016/j.ejmg.2020.103855 PMID:32585897 (GREB1L) 著者 Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM タイトル Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. 雑誌 Genes (Basel) 11:E687 (2020) DOI:10.3390/genes11060687 PMID:29713870 (ELMOD3) 著者 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 タイトル ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. 雑誌 Hum Genet 137:329-342 (2018) DOI:10.1007/s00439-018-1885-0 PMID:30535804 (ATP2B2) 著者 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 タイトル De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. 雑誌 Hum Genet 138:61-72 (2019) DOI:10.1007/s00439-018-1965-1 PMID:33268592 (MAP1B) 著者 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 タイトル Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss. 雑誌 JCI Insight 5:136046 (2020) DOI:10.1172/jci.insight.136046 PMID:35278131 (ATP11A) 著者 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 タイトル Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. 雑誌 Hum Genet 141:431-444 (2022) DOI:10.1007/s00439-022-02444-x PMID:34059922 (USP48) 著者 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 タイトル Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. 雑誌 Hum Mol Genet 30:1785-1796 (2021) DOI:10.1093/hmg/ddab145 PMID:32776944 (THOC1) 著者 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 タイトル THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis. 雑誌 PLoS Genet 16:e1008953 (2020) DOI:10.1371/journal.pgen.1008953 PMID:33358777 (PI4KB) 著者 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 タイトル Phosphatidylinositol 4-kinase beta mutations cause nonsyndromic sensorineural deafness and inner ear malformation. 雑誌 J Genet Genomics 47:618-626 (2020) DOI:10.1016/j.jgg.2020.07.008 PMID:36048850 (EPHA10) 著者 Huang S, Ma L, Liu X, He C, Li J, Hu Z, Jiang L, Liu Y, Liu X, Feng Y, Cai X タイトル A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans. 雑誌 Hum Mol Genet 32:720-731 (2023) DOI:10.1093/hmg/ddac223 PMID:33111345 (ATOH1) 著者 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 タイトル Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. 雑誌 Clin Genet 98:353-364 (2020) DOI:10.1111/cge.13817 |