| H00605 | |
| H番号 | H00605 |
| 名称 | 遺伝性難聴 (常染色体劣性) |
| 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. 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06528(H00605) Calcium signaling |
| 病因遺伝子 | (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] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] |
| 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: 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 620238 |
| 文献 | PMID:16650073 著者 Petersen MB, Willems PJ タイトル Non-syndromic, autosomal-recessive deafness. 雑誌 Clin Genet 69:371-92 (2006) DOI:10.1111/j.1399-0004.2006.00613.x PMID:16446920 著者 Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV タイトル Molecular genetics of non-syndromic deafness. 雑誌 Braz J Otorhinolaryngol 71:216-23 (2005) DOI:10.1590/S0034-72992005000200016 PMID:12324385 著者 Bitner-Glindzicz M タイトル Hereditary deafness and phenotyping in humans. 雑誌 Br Med Bull 63:73-94 (2002) DOI:10.1093/bmb/63.1.73 PMID:31160754 (GJB2) 著者 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 タイトル Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 雑誌 Genet Med 21:2442-2452 (2019) DOI:10.1038/s41436-019-0535-9 PMID:10587579 (GJB3) 著者 Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE タイトル Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. 雑誌 Hum Mol Genet 9:63-7 (2000) DOI:10.1093/hmg/9.1.63 PMID:11807148 (GJB6) 著者 del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F タイトル A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 雑誌 N Engl J Med 346:243-9 (2002) DOI:10.1056/NEJMoa012052 PMID:9171832 (MYO7A) 著者 Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD タイトル Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 雑誌 Nat Genet 16:188-90 (1997) DOI:10.1038/ng0697-188 PMID:11735029 (MYO15A) 著者 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 タイトル Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 雑誌 Hum Genet 109:535-41 (2001) DOI:10.1007/s004390100604 PMID:9500541 (SLC26A4) 著者 Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER タイトル A mutation in PDS causes non-syndromic recessive deafness. 雑誌 Nat Genet 18:215-7 (1998) DOI:10.1038/ng0398-215 PMID:17503324 (FOXI1) 著者 Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ タイトル Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 雑誌 Am J Hum Genet 80:1055-63 (2007) DOI:10.1086/518314 PMID:19426954 (KCNJ10) 著者 Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ タイトル Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 雑誌 Am J Hum Genet 84:651-7 (2009) DOI:10.1016/j.ajhg.2009.04.014 PMID:12145746 (TMIE) 著者 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 タイトル Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 雑誌 Am J Hum Genet 71:632-6 (2002) DOI:10.1086/342193 PMID:11850618 (TMC1) 著者 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 タイトル Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 雑誌 Nat Genet 30:277-84 (2002) DOI:10.1038/ng842 PMID:11137999 (TMPRSS3) 著者 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 タイトル Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 雑誌 Nat Genet 27:59-63 (2001) DOI:10.1038/83768 PMID:10192385 (OTOF) 著者 Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C タイトル A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 雑誌 Nat Genet 21:363-9 (1999) DOI:10.1038/7693 PMID:11090341 (CDH23) 著者 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 タイトル Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 雑誌 Am J Hum Genet 68:26-37 (2001) DOI:10.1086/316954 PMID:15829536 (ATP2B2) 著者 Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ タイトル Modification of human hearing loss by plasma-membrane calcium pump PMCA2. 雑誌 N Engl J Med 352:1557-64 (2005) DOI:10.1056/NEJMoa043899 PMID:21326233 (GIPC3) 著者 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 タイトル Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 雑誌 Nat Commun 2:201 (2011) DOI:10.1038/ncomms1200 PMID:11687802 (STRC) 著者 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 タイトル Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 雑誌 Nat Genet 29:345-9 (2001) DOI:10.1038/ng726 PMID:12136232 (USH1C) 著者 Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ タイトル Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. 雑誌 Hum Genet 111:26-30 (2002) DOI:10.1007/s00439-002-0736-0 PMID:23122587 (OTOG) 著者 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 タイトル Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 雑誌 Am J Hum Genet 91:883-9 (2012) DOI:10.1016/j.ajhg.2012.09.012 PMID:9949200 (TECTA) 著者 Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C タイトル An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 雑誌 Hum Mol Genet 8:409-12 (1999) DOI:10.1093/hmg/8.3.409 PMID:11972037 (OTOA) 著者 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 タイトル 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. 雑誌 Proc Natl Acad Sci U S A 99:6240-5 (2002) DOI:10.1073/pnas.082515999 PMID:14570705 (PCDH15) 著者 Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER タイトル PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 雑誌 Hum Mol Genet 12:3215-23 (2003) DOI:10.1093/hmg/ddg358 PMID:17226784 (RDX) 著者 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 タイトル Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 雑誌 Hum Mutat 28:417-23 (2007) DOI:10.1002/humu.20469 PMID:20137778 (GRXCR1) 著者 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 タイトル Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. 雑誌 Am J Hum Genet 86:138-47 (2010) DOI:10.1016/j.ajhg.2009.12.017 PMID:29408807 (GAB1) 著者 Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S タイトル Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 雑誌 J Clin Invest 128:1509-1522 (2018) DOI:10.1172/JCI97350 PMID:11101839 (METTL13) 著者 Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER タイトル Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 雑誌 Nat Genet 26:431-4 (2000) DOI:10.1038/82558 PMID:16385457 (TRIOBP) 著者 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 タイトル Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 雑誌 Am J Hum Genet 78:137-43 (2006) DOI:10.1086/499164 PMID:11163249 (CLDN14) 著者 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 タイトル Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. 雑誌 Cell 104:165-72 (2001) DOI:10.1016/s0092-8674(01)00200-8 PMID:12032315 (MYO3A) 著者 Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB タイトル From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. 雑誌 Proc Natl Acad Sci U S A 99:7518-23 (2002) DOI:10.1073/pnas.102091699 PMID:11973626 (WHRN) 著者 Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C タイトル DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. 雑誌 Eur J Hum Genet 10:210-2 (2002) DOI:10.1038/sj.ejhg.5200780 PMID:27259055 (CDC14A) 著者 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 タイトル Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 雑誌 Am J Hum Genet 98:1266-1270 (2016) DOI:10.1016/j.ajhg.2016.04.015 PMID:18179891 (ESRRB) 著者 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 タイトル Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 雑誌 Am J Hum Genet 82:125-38 (2008) DOI:10.1016/j.ajhg.2007.09.008 PMID:15286153 (ESPN) 著者 Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB タイトル Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 雑誌 J Med Genet 41:591-5 (2004) DOI:10.1136/jmg.2004.018523 PMID:12687499 (MYO6) 著者 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 タイトル Mutations of MYO6 are associated with recessive deafness, DFNB37. 雑誌 Am J Hum Genet 72:1315-22 (2003) DOI:10.1086/375122 PMID:19576567 (HGF) 著者 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 タイトル Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. 雑誌 Am J Hum Genet 85:25-39 (2009) DOI:10.1016/j.ajhg.2009.06.003 PMID:21255762 (ILDR1) 著者 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 タイトル Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 雑誌 Am J Hum Genet 88:127-37 (2011) DOI:10.1016/j.ajhg.2010.12.011 PMID:24482543 (ADCY1) 著者 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 タイトル Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 雑誌 Hum Mol Genet 23:3289-98 (2014) DOI:10.1093/hmg/ddu042 PMID:23023331 (CIB2) 著者 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 タイトル Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 雑誌 Nat Genet 44:1265-71 (2012) DOI:10.1038/ng.2426 PMID:17186462 (MARVELD2) 著者 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 タイトル Tricellulin is a tight-junction protein necessary for hearing. 雑誌 Am J Hum Genet 79:1040-51 (2006) DOI:10.1086/510022 PMID:16033917 (COL11A2) 著者 Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ タイトル Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 雑誌 J Med Genet 42:e61 (2005) DOI:10.1136/jmg.2005.032615 PMID:26416264 (PDZD7) 著者 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 タイトル PDZD7 and hearing loss: More than just a modifier. 雑誌 Am J Med Genet A 167A:2957-65 (2015) DOI:10.1002/ajmg.a.37274 PMID:16804542 (PJVK) 著者 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 タイトル Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 雑誌 Nat Genet 38:770-8 (2006) DOI:10.1038/ng1829 PMID:24164807 (SLC26A5) 著者 Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T タイトル Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 雑誌 Orphanet J Rare Dis 8:172 (2013) DOI:10.1186/1750-1172-8-172 PMID:18953341 (LRTOMT) 著者 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 タイトル Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. 雑誌 Nat Genet 40:1335-40 (2008) DOI:10.1038/ng.245 PMID:25601850 (DCDC2) 著者 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 タイトル A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 雑誌 Hum Mol Genet 24:2482-91 (2015) DOI:10.1093/hmg/ddv009 PMID:16752389 (LHFPL5) 著者 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 タイトル Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 雑誌 Hum Mutat 27:633-9 (2006) DOI:10.1002/humu.20368 PMID:26805784 (S1PR2) 著者 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 タイトル Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 雑誌 Am J Hum Genet 98:331-8 (2016) DOI:10.1016/j.ajhg.2015.12.004 PMID:23084290 (PNPT1) 著者 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 タイトル A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 雑誌 Am J Hum Genet 91:919-27 (2012) DOI:10.1016/j.ajhg.2012.09.002 PMID:21185009 (MSRB3) 著者 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 タイトル Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. 雑誌 Am J Hum Genet 88:19-29 (2011) DOI:10.1016/j.ajhg.2010.11.010 PMID:23348741 (SYNE4) 著者 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 タイトル The LINC complex is essential for hearing. 雑誌 J Clin Invest 123:740-50 (2013) DOI:10.1172/JCI66911 PMID:19732867 (LOXHD1) 著者 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 タイトル Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. 雑誌 Am J Hum Genet 85:328-37 (2009) DOI:10.1016/j.ajhg.2009.07.017 PMID:20170898 (TPRN) 著者 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 タイトル Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. 雑誌 Am J Hum Genet 86:479-84 (2010) DOI:10.1016/j.ajhg.2010.02.003 PMID:20602914 (GPSM2) 著者 Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M タイトル Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. 雑誌 Am J Hum Genet 87:90-4 (2010) DOI:10.1016/j.ajhg.2010.05.010 PMID:20346435 (PTPRQ) 著者 Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H タイトル Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 雑誌 Am J Hum Genet 86:604-10 (2010) DOI:10.1016/j.ajhg.2010.02.015 PMID:23122586 (OTOGL) 著者 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 タイトル Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 雑誌 Am J Hum Genet 91:872-82 (2012) DOI:10.1016/j.ajhg.2012.09.011 PMID:24387994 (TBC1D24) 著者 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 タイトル Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 雑誌 Am J Hum Genet 94:144-52 (2014) DOI:10.1016/j.ajhg.2013.12.004 PMID:24039609 (ELMOD3) 著者 Jaworek TJ, Richard EM, Ivanova AA, Giese AP, Choo DI, Khan SN, Riazuddin S, Kahn RA, Riazuddin S タイトル An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 雑誌 PLoS Genet 9:e1003774 (2013) DOI:10.1371/journal.pgen.1003774 PMID:23768514 (KARS) 著者 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 タイトル Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 雑誌 Am J Hum Genet 93:132-40 (2013) DOI:10.1016/j.ajhg.2013.05.018 PMID:20451170 (SERPINB6) 著者 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 タイトル A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 雑誌 Am J Hum Genet 86:797-804 (2010) DOI:10.1016/j.ajhg.2010.04.004 PMID:22981119 (CABP2) 著者 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 タイトル A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 雑誌 Am J Hum Genet 91:636-45 (2012) DOI:10.1016/j.ajhg.2012.08.018 PMID:25807530 (NARS2) 著者 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 タイトル Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 雑誌 PLoS Genet 11:e1005097 (2015) DOI:10.1371/journal.pgen.1005097 PMID:25941349 (MET) 著者 Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S タイトル A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. 雑誌 J Med Genet 52:548-52 (2015) DOI:10.1136/jmedgenet-2015-103023 PMID:22678063 (TSPEAR) 著者 Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C タイトル Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 雑誌 Hum Mol Genet 21:3835-44 (2012) DOI:10.1093/hmg/dds212 PMID:25331638 (TMEM132E) 著者 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 タイトル Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. 雑誌 Hum Mutat 36:98-105 (2015) DOI:10.1002/humu.22712 PMID:29590114 (PPIP5K2) 著者 Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S タイトル Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. 雑誌 PLoS Genet 14:e1007297 (2018) DOI:10.1371/journal.pgen.1007297 PMID:24619944 (GRXCR2) 著者 Imtiaz A, Kohrman DC, Naz S タイトル A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. 雑誌 Hum Mutat 35:618-24 (2014) DOI:10.1002/humu.22545 PMID:24741995 (EPS8) 著者 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 タイトル EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 雑誌 Orphanet J Rare Dis 9:55 (2014) DOI:10.1186/1750-1172-9-55 PMID:17021174 (CLIC5) 著者 Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR タイトル The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. 雑誌 J Neurosci 26:10188-98 (2006) DOI:10.1523/JNEUROSCI.2166-06.2006 PMID:24958875 (RIPOR2) 著者 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 タイトル FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. 雑誌 Proc Natl Acad Sci U S A 111:9864-8 (2014) DOI:10.1073/pnas.1401950111 PMID:26282398 (EPS8L2) 著者 Dahmani M, Ammar-Khodja F, Bonnet C, Lefevre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C タイトル EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. 雑誌 Orphanet J Rare Dis 10:96 (2015) DOI:10.1186/s13023-015-0316-8 PMID:26881968 (WBP2) 著者 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 タイトル Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. 雑誌 EMBO Mol Med 8:191-207 (2016) DOI:10.15252/emmm.201505523 PMID:27162350 (ROR1) 著者 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 タイトル ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. 雑誌 Proc Natl Acad Sci U S A 113:5993-8 (2016) DOI:10.1073/pnas.1522512113 PMID:29107558 (ESRP1) 著者 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 タイトル ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. 雑誌 Dev Cell 43:318-331.e5 (2017) DOI:10.1016/j.devcel.2017.09.026 PMID:29449721 (COCH) 著者 JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W タイトル Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment. 雑誌 Eur J Hum Genet 26:587-591 (2018) DOI:10.1038/s41431-017-0066-2 PMID:29961571 (MPZL2) 著者 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 タイトル MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. 雑誌 Am J Hum Genet 103:74-88 (2018) DOI:10.1016/j.ajhg.2018.05.011 PMID:24312468 (BDP1) 著者 Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P タイトル Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. 雑誌 PLoS One 8:e80323 (2013) DOI:10.1371/journal.pone.0080323 PMID:29703829 (CEACAM16) 著者 Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ タイトル Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. 雑誌 J Med Genet 55:555-560 (2018) DOI:10.1136/jmedgenet-2018-105349 PMID:30610177 (GRAP) 著者 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 タイトル Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. 雑誌 Proc Natl Acad Sci U S A 116:1347-1352 (2019) DOI:10.1073/pnas.1810951116 PMID:30973865 (SPNS2) 著者 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 タイトル Mouse screen reveals multiple new genes underlying mouse and human hearing loss. 雑誌 PLoS Biol 17:e3000194 (2019) DOI:10.1371/journal.pbio.3000194 PMID:31175426 (CLDN9) 著者 Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M タイトル A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. 雑誌 Hum Genet 138:1071-1075 (2019) DOI:10.1007/s00439-019-02037-1 PMID:33496845 (CLRN2) 著者 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 タイトル A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. 雑誌 Hum Genet 140:915-931 (2021) DOI:10.1007/s00439-020-02254-z PMID:34626583 (SPATA5L1) 著者 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 タイトル Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. 雑誌 Am J Hum Genet 108:2006-2016 (2021) DOI:10.1016/j.ajhg.2021.08.003 PMID:35727972 (MINAR2) 著者 Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M タイトル Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. 雑誌 Proc Natl Acad Sci U S A 119:e2204084119 (2022) DOI:10.1073/pnas.2204084119 |