{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T14:27:59Z","timestamp":1777559279448,"version":"3.51.4"},"reference-count":51,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2013,2,22]],"date-time":"2013-02-22T00:00:00Z","timestamp":1361491200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0057369","type":"journal-article","created":{"date-parts":[[2013,2,23]],"date-time":"2013-02-23T04:35:51Z","timestamp":1361594151000},"page":"e57369","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":32,"title":["Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment"],"prefix":"10.1371","volume":"8","author":[{"given":"Chen-Chi","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin-Hung","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Chang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei-Jer","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Shiung","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan-Jen","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei-Lung","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,2,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2013a silent revolution","volume":"354","author":"CC Morton","year":"2006","journal-title":"N Engl J Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","article-title":"Sensorineural hearing loss in children","volume":"365","author":"RJ Smith","year":"2005","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1001\/archpediatrics.2007.59","article-title":"Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children","volume":"162","author":"CC Wu","year":"2008","journal-title":"Arch Pediatr Adolesc Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/lary.21751","article-title":"Genetic characteristics in children with cochlear implants and the corresponding auditory performance","volume":"121","author":"CC Wu","year":"2011","journal-title":"Laryngoscope"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1159\/000284349","article-title":"Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation","volume":"15","author":"CC Wu","year":"2010","journal-title":"Audiol Neurootol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"12323","DOI":"10.1021\/bi970962r","article-title":"Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness","volume":"36","author":"K Hamasaki","year":"1997","journal-title":"Biochemistry"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.mrrev.2008.08.002","article-title":"Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?","volume":"681","author":"N Hilgert","year":"2009","journal-title":"Mutat Res"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1159\/000112425","article-title":"Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities","volume":"13","author":"CC Wu","year":"2008","journal-title":"Audiol Neurootol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2010.083568","article-title":"Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa","volume":"48","author":"DA Simpson","year":"2011","journal-title":"J Med Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/humu.21216","article-title":"Genetic diagnosis of familial breast cancer using clonal sequencing","volume":"31","author":"JE Morgan","year":"2010","journal-title":"Hum Mutat"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1161\/CIRCGENETICS.110.958322","article-title":"Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies","volume":"4","author":"B Meder","year":"2011","journal-title":"Circ Cardiovasc Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"21104","DOI":"10.1073\/pnas.1012989107","article-title":"Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing","volume":"107","author":"AE Shearer","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"R89","DOI":"10.1186\/gb-2011-12-9-r89","article-title":"Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families","volume":"12","author":"Z Brownstein","year":"2011","journal-title":"Genome Biol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1002\/lary.20621","article-title":"Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment","volume":"119","author":"CC Wu","year":"2009","journal-title":"Laryngoscope"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1097\/01.mlg.0000150691.85387.3f","article-title":"Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia","volume":"115","author":"CC Wu","year":"2005","journal-title":"Laryngoscope"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"MA DePristo","year":"2011","journal-title":"Nat Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/bioinformatics\/btr667","article-title":"Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools","volume":"28","author":"FA San Lucas","year":"2012","journal-title":"Bioinformatics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"P Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"JT Robinson","year":"2011","journal-title":"Nat Biotechnol"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Thorvaldsdottir H, Robinson JT, Mesirov JP (2012) Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform.","DOI":"10.1093\/bib\/bbs017"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.a.30765","article-title":"The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness","volume":"137","author":"D Feldmann","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1034\/j.1399-0004.2002.620409.x","article-title":"The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family","volume":"62","author":"O Uyguner","year":"2002","journal-title":"Clin Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.ijporl.2009.02.009","article-title":"Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan","volume":"73","author":"MC Su","year":"2009","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/s00439-010-0856-x","article-title":"Prospective variants screening of connexin genes in children with hearing impairment: genotype\/phenotype correlation","volume":"128","author":"JJ Yang","year":"2010","journal-title":"Hum Genet"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S0165-0173(99)00076-4","article-title":"Gap junction systems in the mammalian cochlea","volume":"32","author":"T Kikuchi","year":"2000","journal-title":"Brain Res Brain Res Rev"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s004390050839","article-title":"Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma","volume":"103","author":"G Richard","year":"1998","journal-title":"Hum Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s004390100484","article-title":"De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss","volume":"108","author":"AR Janecke","year":"2001","journal-title":"Hum Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/ng0697-191","article-title":"The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene","volume":"16","author":"D Weil","year":"1997","journal-title":"Nat Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type 1B","volume":"374","author":"D Weil","year":"1995","journal-title":"Nature"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/ng0697-188","article-title":"Mutations in the myosin VIIA gene cause non-syndromic recessive deafness","volume":"16","author":"XZ Liu","year":"1997","journal-title":"Nat Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/ng1197-268","article-title":"Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene","volume":"17","author":"XZ Liu","year":"1997","journal-title":"Nat Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0092-8674(00)80556-5","article-title":"KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness","volume":"96","author":"C Kubisch","year":"1999","journal-title":"Cell"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1097\/MOO.0b013e32830f4aa3","article-title":"KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss","volume":"16","author":"L Nie","year":"2008","journal-title":"Curr Opin Otolaryngol Head Neck Surg"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"152","DOI":"10.4161\/cam.1.3.5089","article-title":"Of Mice and Men: Relevance of Cellular and Molecular Characterizations of Myosin IIA to MYH9-Related Human Disease","volume":"1","author":"S Even-Ram","year":"2007","journal-title":"Cell Adhesion & Migration"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1086\/321212","article-title":"Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9","volume":"67","author":"AK Lalwani","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1097\/01.md.0000076006.64510.5c","article-title":"MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness","volume":"82","author":"M Seri","year":"2003","journal-title":"Medicine (Baltimore)"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1749-6632.1968.tb11893.x","article-title":"Enzyme diversity in human populations","volume":"151","author":"H Harris","year":"1968","journal-title":"Ann N Y Acad Sci"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1097\/01.GIM.0000066796.11916.94","article-title":"Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness","volume":"5","author":"HL Hwa","year":"2003","journal-title":"Genet Med"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1111\/j.1399-0004.2004.00325.x","article-title":"High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals","volume":"66","author":"D Wattanasirichaigoon","year":"2004","journal-title":"Clin Genet"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1479-5876-7-26","article-title":"GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment","volume":"7","author":"P Dai","year":"2009","journal-title":"J Transl Med"},{"key":"ref46","first-page":"970","article-title":"The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss","volume":"28","author":"E Van Eyken","year":"2007","journal-title":"Otol Neurotol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ajhg.2010.01.030","article-title":"Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79","volume":"86","author":"AU Rehman","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ajhg.2010.05.010","article-title":"Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82","volume":"87","author":"T Walsh","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1186\/gb-2012-13-5-245","article-title":"High-throughput sequencing to decipher the genetic heterogeneity of deafness","volume":"13","author":"Z Brownstein","year":"2012","journal-title":"Genome Biol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1089\/gtmb.2011.0187","article-title":"A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach","volume":"16","author":"W Tang","year":"2012","journal-title":"Genet Test Mol Biomarkers"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1755-8794-5-17","article-title":"Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform","volume":"5","author":"S De Keulenaer","year":"2012","journal-title":"BMC Med Genomics"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0057369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T22:00:31Z","timestamp":1562709631000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0057369"}},"subtitle":[],"editor":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,2,22]]},"references-count":51,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,2,22]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0057369","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,22]]}}}