{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:21:18Z","timestamp":1740158478509,"version":"3.37.3"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T00:00:00Z","timestamp":1670284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T00:00:00Z","timestamp":1670284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"crossref","award":["2019R1A2C1087547 and 2021R1A4A2001389"],"award-info":[{"award-number":["2019R1A2C1087547 and 2021R1A4A2001389"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s13258-022-01349-3","type":"journal-article","created":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T08:04:03Z","timestamp":1670313843000},"page":"145-156","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss"],"prefix":"10.1007","volume":"45","author":[{"given":"Hee Ji","family":"Choi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumaira","family":"Kanwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashid","family":"Hameed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nasrin","family":"Tamanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shazia","family":"Perveen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hina","family":"Mahreen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wonseok","family":"Son","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung Suk","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,12,6]]},"reference":[{"key":"1349_CR1","doi-asserted-by":"publisher","first-page":"4496","DOI":"10.1073\/pnas.1817537116","volume":"116","author":"O Akil","year":"2019","unstructured":"Akil O, Dyka F, Calvet C, Emptoz A, Lahlou G, Nouaille S, Boutet de Monvel J, Hardelin JP, Hauswirth WW, Avan P et al (2019) Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model. Proc Natl Acad Sci USA 116:4496\u20134501","journal-title":"Proc Natl Acad Sci USA"},{"key":"1349_CR2","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/jhg.2009.21","volume":"54","author":"S Anwar","year":"2009","unstructured":"Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S (2009) SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred\u2019s syndrome in Pakistanis. J Hum Genet 54:266\u2013270","journal-title":"J Hum Genet"},{"key":"1349_CR3","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1093\/hmg\/6.12.2163","volume":"6","author":"MM Carrasquillo","year":"1997","unstructured":"Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163\u20132172","journal-title":"Hum Mol Genet"},{"key":"1349_CR4","doi-asserted-by":"publisher","first-page":"145464","DOI":"10.1016\/j.gene.2021.145464","volume":"778","author":"M Dianatpour","year":"2021","unstructured":"Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A (2021) Identification of homozygous mutations for hearing loss. Gene 778:145464","journal-title":"Gene"},{"key":"1349_CR5","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1007\/s10528-013-9589-6","volume":"51","author":"Y Ding","year":"2013","unstructured":"Ding Y, Leng J, Fan F, Xia B, Xu P (2013) The role of mitochondrial DNA mutations in hearing loss. Biochem Genet 51:588\u2013602","journal-title":"Biochem Genet"},{"key":"1349_CR6","doi-asserted-by":"publisher","first-page":"21724","DOI":"10.1074\/jbc.M110.120188","volume":"285","author":"AA Dror","year":"2010","unstructured":"Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabe de Angelis M, Paulmichl M, Weiner S et al (2010) Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. J Biol Chem 285:21724\u201321735","journal-title":"J Biol Chem"},{"key":"1349_CR7","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1002\/ajmg.a.33972","volume":"155A","author":"S Edvardson","year":"2011","unstructured":"Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O (2011) A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am J Med Genet 155A:1170\u20131172","journal-title":"Am J Med Genet"},{"key":"1349_CR8","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1038\/gim.2017.155","volume":"20","author":"T Eisenberger","year":"2018","unstructured":"Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, N\u00fcrnberg G, Toliat M, N\u00fcrnberg P, M\u00fcrbe D, Bolz HJ (2018) A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet Med 20:614\u2013621","journal-title":"Genet Med"},{"key":"1349_CR9","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1093\/hmg\/10.2.153","volume":"10","author":"LA Everett","year":"2001","unstructured":"Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED (2001) Targeted disruption of mouse pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153\u2013161","journal-title":"Hum Mol Genet"},{"key":"1349_CR10","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/ng1297-411","volume":"17","author":"LA Everett","year":"1997","unstructured":"Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD et al (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411\u2013422","journal-title":"Nat Genet"},{"key":"1349_CR11","doi-asserted-by":"publisher","first-page":"3784","DOI":"10.1093\/nar\/gkg563","volume":"31","author":"E Gasteiger","year":"2003","unstructured":"Gasteiger E, Gattiker A, Hoogland C, Ivanyi I, Appel RD, Bairoch A (2003) ExPASy: the proteomics server for in-depth protein knowledge and analysis. Nucleic Acids Res 31:3784\u20133788","journal-title":"Nucleic Acids Res"},{"key":"1349_CR12","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/j.ajhg.2009.07.017","volume":"85","author":"N Grillet","year":"2009","unstructured":"Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ et al (2009) Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet 85:328\u2013337","journal-title":"Am J Hum Genet"},{"key":"1349_CR13","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1111\/j.1399-0004.2009.01344.x","volume":"77","author":"MS Hildebrand","year":"2010","unstructured":"Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H et al (2010) Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet 77:563\u2013571","journal-title":"Clin Genet"},{"key":"1349_CR14","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/387080a0","volume":"387","author":"DP Kelsell","year":"1997","unstructured":"Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80\u201383","journal-title":"Nature"},{"key":"1349_CR15","doi-asserted-by":"publisher","first-page":"e917","DOI":"10.1002\/mgg3.917","volume":"7","author":"A Khan","year":"2019","unstructured":"Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X (2019) Sequence variants in genes causing nonsyndromic hearing loss in a pakistani cohort. Mol Genet Genomic Med 7:e917","journal-title":"Mol Genet Genomic Med"},{"key":"1349_CR16","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1111\/j.1399-0004.2007.00895.x","volume":"72","author":"SI Kitajiri","year":"2007","unstructured":"Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ (2007) Identities, frequencies and origins of TMC1 mutations causing DFNB7\/B11 deafness in Pakistan. Clin Genet 72:546\u2013550","journal-title":"Clin Genet"},{"key":"1349_CR17","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.heares.2019.01.003","volume":"376","author":"H Kremer","year":"2019","unstructured":"Kremer H (2019) Hereditary hearing loss; about the known and the unknown. Hear Res 376:58\u201368","journal-title":"Hear Res"},{"key":"1349_CR18","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1097\/00129492-200111000-00025","volume":"22","author":"T Kudo","year":"2001","unstructured":"Kudo T, Ikeda K, Oshima T, Kure S, Tammasaeng M, Prasansuk S, Matsubara Y (2001) GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 22:858\u2013861","journal-title":"Otol Neurotol"},{"key":"1349_CR19","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/ng842","volume":"30","author":"K Kurima","year":"2002","unstructured":"Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T et al (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30:277\u2013284","journal-title":"Nat Genet"},{"key":"1349_CR20","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.3390\/genes12081267","volume":"12","author":"A Le Nabec","year":"2021","unstructured":"Le Nabec A, Collobert M, Le Mar\u00e9chal C, Marianowski R, F\u00e9rec C, Moisan S (2021) Whole-genome sequencing improves the diagnosis of DFNB1 monoallelic patients. Genes (Basel) 12:1267","journal-title":"Genes (Basel)"},{"key":"1349_CR21","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1007\/s13258-020-00933-9","volume":"42","author":"AJ Lee","year":"2020","unstructured":"Lee AJ, Nam DE, Choi YJ, Nam SH, Choi BO, Chung KW (2020) Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy. Genes Genom 42:663\u2013672","journal-title":"Genes Genom"},{"key":"1349_CR22","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1007\/s004390100604","volume":"109","author":"N Liburd","year":"2001","unstructured":"Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T et al (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109:535\u2013541","journal-title":"Hum Genet"},{"key":"1349_CR23","doi-asserted-by":"publisher","first-page":"2195","DOI":"10.1001\/jama.2020.17647","volume":"324","author":"JEC Lieu","year":"2020","unstructured":"Lieu JEC, Kenna M, Anne S, Davidson L (2020) Hearing loss in children: a review. JAMA 324:2195\u20132205","journal-title":"JAMA"},{"key":"1349_CR24","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/nature07869","volume":"458","author":"S Maeda","year":"2009","unstructured":"Maeda S, Nakagawa S, Suga M, Yamashita E, Oshima A, Fujiyoshi Y, Tsukihara T (2009) Structure of the connexin 26 gap junction channel at 3.5 \u00c5 resolution. Nature 458:597\u2013602","journal-title":"Nature"},{"key":"1349_CR25","doi-asserted-by":"publisher","first-page":"735","DOI":"10.3390\/genes10100735","volume":"10","author":"K Maekawa","year":"2019","unstructured":"Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M et al (2019) Mutational spectrum and clinical features of patients with LOXHD1 variants identified in an 8074 hearing loss patient cohort. Genes (Basel) 10:735","journal-title":"Genes (Basel)"},{"key":"1349_CR26","doi-asserted-by":"crossref","unstructured":"Mahmood U, Bukhari SA, Ali M, Ahmed ZM, Riazuddin S (2021) Identification of hearing loss-associated variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani families. Biomed Res Int 2021:5584788","DOI":"10.1155\/2021\/5584788"},{"key":"1349_CR27","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton CC, Nance WE (2006) Newborn hearing screening: a silent revolution. N Engl J Med 354:2151\u20132164","journal-title":"N Engl J Med"},{"key":"1349_CR28","doi-asserted-by":"publisher","first-page":"1014","DOI":"10.1002\/humu.20556","volume":"28","author":"N Nal","year":"2007","unstructured":"Nal N, Ahmed ZM, Erkal E, Alper OM, Luleci G, Dinc O, Waryah AM et al (2007) Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat 28:1014\u20131019","journal-title":"Hum Mutat"},{"key":"1349_CR29","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1111\/cge.12856","volume":"91","author":"S Naz","year":"2017","unstructured":"Naz S, Imtiaz A, Mujtaba G, Maqsood A, Bashir R, Bukhari I, Khan MR, Ramzan M, Fatima A, Rehman AU et al (2017) Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet 91:589\u2013598","journal-title":"Clin Genet"},{"key":"1349_CR30","doi-asserted-by":"publisher","first-page":"R65","DOI":"10.1093\/hmg\/ddz129","volume":"28","author":"R Omichi","year":"2019","unstructured":"Omichi R, Shibata SB, Morton CC, Smith RJH (2019) Gene therapy for hearing loss. Hum Mol Genet 28:R65\u2013R79","journal-title":"Hum Mol Genet"},{"key":"1349_CR31","doi-asserted-by":"publisher","first-page":"9979","DOI":"10.1007\/s11033-020-06037-7","volume":"47","author":"HR Park","year":"2020","unstructured":"Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW (2020) Homozygous mutations in pakistani consanguineous families with prelingual nonsyndromic hearing loss. Mol Biol Rep 47:9979\u20139985","journal-title":"Mol Biol Rep"},{"key":"1349_CR32","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1111\/j.1399-0004.2006.00613.x","volume":"69","author":"MB Petersen","year":"2006","unstructured":"Petersen MB, Willems PJ (2006) Non-syndromic, autosomal-recessive deafness. Clin Genet 69:371\u2013392","journal-title":"Clin Genet"},{"key":"1349_CR33","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1111\/j.1399-0004.2005.00468.x","volume":"68","author":"V Piazza","year":"2005","unstructured":"Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N et al (2005) Functional analysis of R75Q mutation in the gene coding for connexin 26 identified in a family with nonsyndromic hearing loss. Clin Genet 68:161\u2013166","journal-title":"Clin Genet"},{"key":"1349_CR34","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1093\/qjmed\/93.2.99","volume":"93","author":"W Reardon","year":"2000","unstructured":"Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD (2000) Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM 93:99\u2013104","journal-title":"QJM"},{"key":"1349_CR35","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/humu.23666","volume":"40","author":"EM Richard","year":"2019","unstructured":"Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I et al (2019) Global genetic insight contributed by consanguineous pakistani families segregating hearing loss. Hum Mutat 40:53\u201372","journal-title":"Hum Mutat"},{"key":"1349_CR36","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1002\/humu.9374","volume":"26","author":"RL Santos","year":"2005","unstructured":"Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K et al (2005) Novel sequence variants in the TMC1 gene in pakistani families with autosomal recessive hearing impairment. Hum Mutat 26:396","journal-title":"Hum Mutat"},{"key":"1349_CR37","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.ajhg.2010.02.015","volume":"86","author":"M Schraders","year":"2010","unstructured":"Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H (2010) Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 86:604\u2013610","journal-title":"Am J Hum Genet"},{"key":"1349_CR38","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1016\/j.ajhg.2012.08.018","volume":"91","author":"I Schrauwen","year":"2012","unstructured":"Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H et al (2012) A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet 91:636\u2013645","journal-title":"Am J Hum Genet"},{"key":"1349_CR39","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/j.ijporl.2009.01.005","volume":"73","author":"A Sirmaci","year":"2009","unstructured":"Sirmaci A, Duman D, Ozt\u00fcrkmen-Akay H, Erbek S, Incesulu A, Ozt\u00fcrk-Hi\u015fmi B, Arici ZS, Y\u00fcksel-Konuk EB, Ta\u015fir-Yilmaz S, Tokg\u00f6z-Yilmaz S et al (2009) Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol 73:699\u2013705","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1349_CR40","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","volume":"135","author":"CM Sloan-Heggen","year":"2016","unstructured":"Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA et al (2016) Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet 135:441\u2013450","journal-title":"Hum Genet"},{"key":"1349_CR41","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1086\/497996","volume":"77","author":"RL Snoeckx","year":"2005","unstructured":"Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A et al (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77:945\u2013957","journal-title":"Am J Hum Genet"},{"key":"1349_CR42","doi-asserted-by":"publisher","first-page":"2401","DOI":"10.1002\/ajmg.a.31525","volume":"140A","author":"H-Y Tang","year":"2006","unstructured":"Tang H-Y, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL (2006) DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet 140A:2401\u20132415","journal-title":"Am J Med Genet"},{"key":"1349_CR43","doi-asserted-by":"publisher","first-page":"1778","DOI":"10.1210\/jcem.87.4.8435","volume":"87","author":"JP Taylor","year":"2002","unstructured":"Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC (2002) Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 87:1778\u20131784","journal-title":"J Clin Endocrinol Metab"},{"key":"1349_CR44","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s00439-002-0750-2","volume":"111","author":"E Th\u00f6nnissen","year":"2002","unstructured":"Th\u00f6nnissen E, Rabionet R, Arbon\u00e8s ML, Estivill X, Willecke K, Ott T (2002) Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 111:190\u2013197","journal-title":"Hum Genet"},{"key":"1349_CR45","doi-asserted-by":"publisher","first-page":"3331","DOI":"10.1523\/JNEUROSCI.0975-20.2021","volume":"41","author":"A Trouillet","year":"2021","unstructured":"Trouillet A, Miller KK, George SS, Wang P, Ali NE, Ricci A, Grillet N (2021) Loxhd1 mutations cause mechanotransduction defects in cochlear hair cells. J Neurosci 41:3331\u20133343","journal-title":"J Neurosci"},{"key":"1349_CR46","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1097\/MAO.0b013e3181c0eaec","volume":"31","author":"D Tucci","year":"2010","unstructured":"Tucci D, Merson MH, Wilson BS (2010) A summary of the literature on global hearing impairment: current status and priorities for action. Otol Neurotol 31:31\u201341","journal-title":"Otol Neurotol"},{"key":"1349_CR47","first-page":"573","volume":"25","author":"S Ullah","year":"2015","unstructured":"Ullah S, Aslamkhan M, Rasheed A (2015) Molecular distribution of deafness loci in various ethnic groups of the Punjab, Pakistan. J Coll Physicians Surg Pak 25:573\u2013578","journal-title":"J Coll Physicians Surg Pak"},{"key":"1349_CR48","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1007\/s004390050933","volume":"104","author":"S Usami","year":"1999","unstructured":"Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188\u2013192","journal-title":"Hum Genet"},{"key":"1349_CR49","doi-asserted-by":"publisher","first-page":"1447","DOI":"10.1126\/science.280.5368.1447","volume":"280","author":"A Wang","year":"1998","unstructured":"Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA et al (1998) Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 280:1447\u20131451","journal-title":"Science"},{"key":"1349_CR50","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1016\/j.ajhg.2019.09.008","volume":"105","author":"HRR Wells","year":"2019","unstructured":"Wells HRR, Freidin MB, Zainul Abidin FN, Payton A, Dawes P, Munro KJ, Morton CC, Moore DR, Dawson SJ, Williams FMK (2019) GWAS identifies 44 independent associated genomic loci for self-reported adult hearing difficulty in UK biobank. Am J Hum Genet 105:788\u2013802","journal-title":"Am J Hum Genet"},{"key":"1349_CR51","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1093\/hmg\/6.9.1605","volume":"6","author":"L Zelante","year":"1997","unstructured":"Zelante L, Gasparini P, Estivill X, Melchionda S, D\u2019Agruma L, Govea N, Mil\u00e1 M, Monica MD, Lutfi J, Shohat M et al (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605\u20131609","journal-title":"Hum Mol Genet"}],"container-title":["Genes & Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01349-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13258-022-01349-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01349-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T06:34:20Z","timestamp":1674282860000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13258-022-01349-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,6]]},"references-count":51,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["1349"],"URL":"https:\/\/doi.org\/10.1007\/s13258-022-01349-3","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"type":"print","value":"1976-9571"},{"type":"electronic","value":"2092-9293"}],"subject":[],"published":{"date-parts":[[2022,12,6]]},"assertion":[{"value":"5 September 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 November 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, and Chung KW declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All participants provided written informed consent according to the Declaration of Helsinki. For minors under the age of 18 years, written consent was provided by their parents. This study was approved by the Institutional Review Board of Kongju National University (KNU_IRB_2018-62).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient consent for publication"}}]}}