{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:35Z","timestamp":1753869695573,"version":"3.41.2"},"reference-count":81,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T00:00:00Z","timestamp":1605657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilateral sensorineural HL in two distinct consanguineous Iranian families to figure out the underlying genetic factors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Physical and sensorineural examinations were performed on the patients. Imaging also was applied to unveil any abnormalities in anatomical structures of the middle and inner ear. In order to decipher the possible genetic causes of the verified <jats:italic>GJB2<\/jats:italic>\u2010negative samples, the probands were subjected to whole\u2010exome sequencing and, subsequently, Sanger sequencing was applied for variant confirmation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinical examinations showed ARNSHL in the patients. After doing whole exome sequencing, two novel variants were identified that were co\u2010segregating with HL that were absent in 100 ethnically matched controls. In the first family, a novel homozygous variant, NM_138691.2: c.530T&gt;C; p.(lle177Thr), in <jats:italic>TMC1<\/jats:italic> gene co\u2010segregated with prelingual ARNSHL. In the second family, NM_022124.6: c.2334G&gt;A; p.(Trp778*) was reported as a nonsense variant causing prelingual ARNSHL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings can, in turn, endorse how <jats:italic>TMC1<\/jats:italic> and <jats:italic>CDH23<\/jats:italic> screening is critical to detecting HL in Iranian patients. Identifying <jats:italic>TMC1<\/jats:italic> and <jats:italic>CDH23<\/jats:italic> pathogenic variants doubtlessly help in the detailed genotypic characterization of HL.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1550","type":"journal-article","created":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T18:36:12Z","timestamp":1605724572000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel homozygous variants in the <i>TMC1<\/i> and <i>CDH23<\/i> genes cause autosomal recessive nonsyndromic hearing loss"],"prefix":"10.1002","volume":"8","author":[{"given":"Safoura","family":"Zardadi","sequence":"first","affiliation":[{"name":"Department of Biology School of Basic Sciences, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9926-3975","authenticated-orcid":false,"given":"Ehsan","family":"Razmara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Golareh","family":"Asgaritarghi","sequence":"additional","affiliation":[{"name":"Department of Genetics Faculty of Biological Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1152-2862","authenticated-orcid":false,"given":"Ehsan","family":"Jafarinia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4489-2923","authenticated-orcid":false,"given":"Fatemeh","family":"Bitarafan","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Biology North Tehran Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sima","family":"Rayat","sequence":"additional","affiliation":[{"name":"Department of Biology School of Basic Sciences, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Navid","family":"Almadani","sequence":"additional","affiliation":[{"name":"Department of Genetics Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine ACECR Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saeid","family":"Morovvati","sequence":"additional","affiliation":[{"name":"Department of Genetics Faculty of Advanced Sciences and Technology Tehran Medical Sciences Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-7903","authenticated-orcid":false,"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,18]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.006"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.89"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.07.075"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.38433"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2019.11.1470"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh082"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00749"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103853"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki375"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.5808\/GI.2018.16.4.e20"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0067008"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2013.02.021"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313282"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100487\u20100"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2011.06.006"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti486"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2016.05.032"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0084773"},{"issue":"2","key":"e_1_2_13_24_1","first-page":"107","article-title":"ScanProsite: A reference implementation of a PROSITE scanning tool","volume":"1","author":"Gattiker A.","year":"2002","journal-title":"Applied Bioinformatics"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010011\u20100975\u2010z"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/19.1.163"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348941011901207"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2008.01053.x"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2008.08.002"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010016\u20100477\u20101"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32603"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9384"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw971"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg129"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424\u2010014\u20101582\u20103"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2007.00895.x"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.07.058"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng842"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep34595"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.10.016"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.2091"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1402152111"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010015\u20100276\u2010z"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2008.06.004"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010006\u20100292\u20100"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anl.2014.04.001"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns5010007"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0165\u20105876(00)00453\u20105"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439\u2010019\u20100037\u2010y"},{"key":"e_1_2_13_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23630"},{"key":"e_1_2_13_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.06.019"},{"key":"e_1_2_13_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-017-4699-0"},{"key":"e_1_2_13_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32774"},{"key":"e_1_2_13_59_1","doi-asserted-by":"publisher","DOI":"10.22038\/IJBMS.2018.26269.6441"},{"key":"e_1_2_13_60_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0099797"},{"key":"e_1_2_13_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2019.05.023"},{"key":"e_1_2_13_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9374"},{"key":"e_1_2_13_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810\u2010575"},{"key":"e_1_2_13_64_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0100146"},{"key":"e_1_2_13_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010020\u201060259\u20100"},{"key":"e_1_2_13_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02483"},{"key":"e_1_2_13_67_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijmr.IJMR_397_15"},{"key":"e_1_2_13_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.01.005"},{"key":"e_1_2_13_69_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103389"},{"key":"e_1_2_13_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010016\u20101648\u20108"},{"key":"e_1_2_13_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"e_1_2_13_72_1","first-page":"2.3. 1","article-title":"Multiple sequence alignment using ClustalW and ClustalX","volume":"1","author":"Thompson J. D.","year":"2003","journal-title":"Current Protocols in Bioinformatics"},{"key":"e_1_2_13_73_1","doi-asserted-by":"publisher","DOI":"10.1159\/000115430"},{"key":"e_1_2_13_74_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm306"},{"key":"e_1_2_13_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.394"},{"key":"e_1_2_13_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23798"},{"key":"e_1_2_13_77_1","doi-asserted-by":"publisher","DOI":"10.2741\/3056"},{"key":"e_1_2_13_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2009.01338.x"},{"key":"e_1_2_13_79_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201085"},{"key":"e_1_2_13_80_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00422"},{"key":"e_1_2_13_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.03.011"},{"key":"e_1_2_13_82_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102105\u20109\u201040"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1550","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1550","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1550","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T08:46:30Z","timestamp":1708505190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,18]]},"references-count":81,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/mgg3.1550"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1550","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2020,11,18]]},"assertion":[{"value":"2020-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1550"}}