{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T05:58:07Z","timestamp":1776491887747,"version":"3.51.2"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:00:00Z","timestamp":1616544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003968","name":"Iran National Science Foundation","doi-asserted-by":"publisher","award":["96011200"],"award-info":[{"award-number":["96011200"]}],"id":[{"id":"10.13039\/501100003968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012155","name":"National Institute for Medical Research Development","doi-asserted-by":"publisher","award":["982338"],"award-info":[{"award-number":["982338"]}],"id":[{"id":"10.13039\/501100012155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32 GM007748"],"award-info":[{"award-number":["T32 GM007748"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non\u2010syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease\u2010causing variants in known deafness\u2010associated genes after screening with a targeted gene panel. We identified likely causal variants in 20 out of 71 families screened. Fifteen families segregated variants in known deafness\u2010associated genes. Eight families segregated variants in novel candidate genes for HL:\n                    <jats:italic>DBH<\/jats:italic>\n                    ,\n                    <jats:italic>TOP3A<\/jats:italic>\n                    ,\n                    <jats:italic>COX18<\/jats:italic>\n                    ,\n                    <jats:italic>USP31<\/jats:italic>\n                    ,\n                    <jats:italic>TCF19<\/jats:italic>\n                    ,\n                    <jats:italic>SCP2, TENM1<\/jats:italic>\n                    , and\n                    <jats:italic>CARMIL1.<\/jats:italic>\n                    In the three of these families, intrafamilial locus heterogeneity was observed with variants in both known and novel candidate genes. In aggregate, we were able to identify the underlying genetic cause of HL in nearly 30% of our study cohort using ES. This study corroborates the observation that high\u2010throughput DNA sequencing in populations with high rates of consanguineous marriages represents a more appropriate strategy to elucidate the genetic etiology of heterogeneous conditions such as HL.\n                  <\/jats:p>","DOI":"10.1111\/cge.13956","type":"journal-article","created":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T12:11:00Z","timestamp":1615637460000},"page":"59-78","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Exome sequencing utility in defining the genetic landscape of hearing loss and novel\u2010gene discovery in Iran"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1200-4044","authenticated-orcid":false,"given":"Marzieh","family":"Mohseni","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2532-4303","authenticated-orcid":false,"given":"Mojgan","family":"Babanejad","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin T.","family":"Booth","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Carver College of Medicine University of Iowa  Iowa City Iowa USA"},{"name":"Department of Neurobiology Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Payman","family":"Jamali","sequence":"additional","affiliation":[{"name":"Shahrood Genetic Counseling Center Welfare Organization  Semnan 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Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaz","family":"Arzhangi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Ghodratpour","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Beheshtian","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faezeh","family":"Jahanshad","sequence":"additional","affiliation":[{"name":"Navid's Institute of Infertility  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan","family":"Otukesh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Iran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Bahrami","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Morteza","family":"Seifati","sequence":"additional","affiliation":[{"name":"Medical Biotechnology Research Center Islamic Azad University  Ashkezar Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niloofar","family":"Bazazzadegan","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farkhonde","family":"Habibi","sequence":"additional","affiliation":[{"name":"Genetic Counseling Center of Welfare Organization  Rasht Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanieh","family":"Behravan","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sepide","family":"Mirzaei","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Keshavarzi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nooshin","family":"Nikzat","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohreh","family":"Mehrjoo","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8305-7114","authenticated-orcid":false,"given":"Michael","family":"Nothnagel","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"},{"name":"University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hela","family":"Azaiez","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Carver College of Medicine University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1201-6731","authenticated-orcid":false,"given":"Richard J.","family":"Smith","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Carver College of Medicine University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6587-7706","authenticated-orcid":false,"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social 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