{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:19:48Z","timestamp":1777727988483,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100022831","name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","doi-asserted-by":"publisher","award":["2018\/090"],"award-info":[{"award-number":["2018\/090"]}],"id":[{"id":"10.13039\/100022831","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This current cross-sectional study aimed to investigate the demographic characteristics and molecular epidemiology of patients with Usher syndrome in the Turkish population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Patients who were followed up with a preliminary diagnosis of Usher syndrome from various regions of the country were included in the study. After a review of patients\u2019 medical histories, all underwent ophthalmological and otorhinolaryngological examinations. Mutations reported in previous studies in\n                      <jats:italic toggle=\"yes\">MYO7A<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">PCDH15<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">USH1C<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">CDH23<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">USH2A<\/jats:italic>\n                      were investigated using Sanger sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Fourteen (29.2%) patients had Usher syndrome type 1 and 16 (33.3%) had type 2. Eighteen (37.5%) patients could not be typed. We detected mutations in\n                      <jats:italic toggle=\"yes\">MYO7A<\/jats:italic>\n                      (c.1343\u2009+\u20091\u2009G\u2009&gt;\u2009A) in seven patients (six heterozygous and one homozygous) from seven families clinically compatible with Usher syndrome type 2 (rather than Usher syndrome type 1, as was expected based on previous studies).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our preliminary findings suggest that the proportions of patients with Usher syndrome type 1 and Usher syndrome type 2 in the Turkish population were almost equal, and none of our patients was clinically compatible with Usher syndrome type 3. Although previous studies reported that mutations in\n                      <jats:italic toggle=\"yes\">MYO7A<\/jats:italic>\n                      rarely caused Usher syndrome type 2, in the Turkish population,\n                      <jats:italic toggle=\"yes\">MYO7A<\/jats:italic>\n                      alleles may be hypomorphic and manifest as a milder phenotype in Usher syndrome compared with other populations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/03000605251381475","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T23:46:53Z","timestamp":1760485613000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey"],"prefix":"10.1177","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0631-453X","authenticated-orcid":false,"given":"Abdurrahman Alpaslan","family":"Alkan","sequence":"first","affiliation":[{"name":"University of Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilek","family":"G\u00fcven","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Maslak Ac\u0131badem Hospital, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Ka\u00e7ar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, \u00dcmitk\u00f6y VeniVidi Eye Hospital, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilge","family":"T\u00fcrk","sequence":"additional","affiliation":[{"name":"Head and Neck Surgery, Department of Otorhinolaryngology, \u015ei\u015fli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcrcan Do\u011fukan","family":"Arslan","sequence":"additional","affiliation":[{"name":"University of Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gamze","family":"Karata\u015f","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Prof. Dr. Cemil Ta\u015f\u00e7\u0131o\u011flu City Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Egemen","family":"Karata\u015f","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, \u015ei\u015fli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hani","family":"Al Saadoni","sequence":"additional","affiliation":[{"name":"Hamidiye International School of Medicine, University of Health Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O\u011fuz Kaan","family":"Kutucu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Karapapak","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yekta","family":"\u015eend\u00fcl","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, EPA Clinic, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ey\u00fcp","family":"D\u00fczg\u00fcn","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Sultan 2. Abdulhamid Han Training and Research Hospital, University of Health Sciences, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"e_1_3_12_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(83)90147-9"},{"key":"e_1_3_12_3_2","unstructured":"Davenport S Omenn G. The heterogeneity of Usher syndrome. In: Proceedings of the 5th international conference on birth defects Montreal Canada 1977."},{"key":"e_1_3_12_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500107"},{"key":"e_1_3_12_5_2","doi-asserted-by":"publisher","DOI":"10.1080\/14992020600975279"},{"key":"e_1_3_12_6_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-8-200710160-00010"},{"key":"e_1_3_12_7_2","doi-asserted-by":"publisher","DOI":"10.1044\/2022_AJA-21-00252"},{"key":"e_1_3_12_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5370.1753"},{"key":"e_1_3_12_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.81.1.46"},{"key":"e_1_3_12_10_2","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-199506000-00010"},{"key":"e_1_3_12_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0329-3"},{"key":"e_1_3_12_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2014.12.006"},{"key":"e_1_3_12_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-002-0485-8"},{"key":"e_1_3_12_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100468"},{"key":"e_1_3_12_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/316889"},{"key":"e_1_3_12_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/302855"},{"key":"e_1_3_12_17_2","doi-asserted-by":"publisher","DOI":"10.1086\/341558"},{"key":"e_1_3_12_18_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15169"},{"key":"e_1_3_12_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.01.009"},{"key":"e_1_3_12_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-21"},{"key":"e_1_3_12_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12257"},{"key":"e_1_3_12_22_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0097808"},{"key":"e_1_3_12_23_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4085"},{"key":"e_1_3_12_24_2","first-page":"695","article-title":"Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1","volume":"19","author":"Liu F","year":"2013","unstructured":"Liu F, Li P, Liu Y, et\u00a0al. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. Mol Vis 2013; 19: 695.","journal-title":"Mol Vis"},{"key":"e_1_3_12_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21587"},{"key":"e_1_3_12_26_2","unstructured":"Uskun E Akraba E. Sted: S\u00fcrekli T\u0131p E\u011fitimi Dergisi (Journal of Continuing Medical Education) 2001; 10: 54\u201356."},{"key":"e_1_3_12_27_2","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_1610_22"},{"key":"e_1_3_12_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-011-0057-x"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605251381475","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605251381475","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605251381475","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:50:59Z","timestamp":1777459859000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605251381475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":27,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1177\/03000605251381475"],"URL":"https:\/\/doi.org\/10.1177\/03000605251381475","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"article-number":"03000605251381475"}}