{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T11:37:46Z","timestamp":1792409866106,"version":"4.4.0"},"reference-count":29,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50-60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>In our study, we used our targeted custom MiamiOtoGenes panel of 180 HL-associated genes to screen 23 unrelated consanguineous Iranian families with at least two affected children to identify potential causal variants for HL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We identified pathogenic variants in seven genes (\n                      <jats:italic toggle=\"yes\">MYO7A, CDH23, GIPC3, USH1C<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">CAPB2, LOXHD1,<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">STRC<\/jats:italic>\n                      ) in nine unrelated families with varying HL profiles. These include five reported and four novel mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>For small consanguineous families that were unsuitable for conventional linkage analysis the employment of the MiamiOtoGenes panel helped identify the genetic cause of HL in a cost-effective and timely manner. This rapid methodology provides for diagnoses of a significant fraction of HL patients, and identifies those who will need more extensive genetic analyses such as whole exome\/genome sequencing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2020.0153","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T14:57:14Z","timestamp":1601391434000},"page":"674-680","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel"],"prefix":"10.1177","volume":"24","author":[{"given":"Abhiraami","family":"Kannan-Sundhari","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA."},{"name":"Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kolsoum","family":"Saeidi","sequence":"additional","affiliation":[{"name":"Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran."},{"name":"Department of Medical Genetics, Kerman University of Medical Sciences, Kerman, Iran."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afsaneh","family":"Sahebalzamani","sequence":"additional","affiliation":[{"name":"Genetic Counselling Center, Welfare Organization of Kerman, Kerman, Iran."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA."},{"name":"Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA."},{"name":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue Zhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA."},{"name":"Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA."},{"name":"John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,10,15]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/514899"},{"key":"e_1_3_5_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/2249-4847.144748"},{"key":"e_1_3_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.01.006"},{"key":"e_1_3_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/341558"},{"key":"e_1_3_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.89"},{"key":"e_1_3_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/83667"},{"key":"e_1_3_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.06.009"},{"key":"e_1_3_5_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1401950111"},{"key":"e_1_3_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2018.06.005"},{"key":"e_1_3_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34391"},{"key":"e_1_3_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.04.007"},{"key":"e_1_3_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.258"},{"key":"e_1_3_5_14_1","first-page":"49","article-title":"Epidemiology of hearing loss in Iran","volume":"54","author":"Joghtaei MT","year":"2004","unstructured":"Joghtaei MT, , Mohammad K, , Saadat S, , Rahgozar M (2004) Epidemiology of hearing loss in Iran. 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