{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T22:01:45Z","timestamp":1775599305897,"version":"3.50.1"},"reference-count":62,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Unilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood USNHL and analyze the associated audiological features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design<\/jats:title>\n                    <jats:p>Retrospective analysis of a prospectively recruited cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Tertiary referral center.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled 38 children with USNHL between January 1, 2018, and December 31, 2021, and performed physical, audiological, imaging, and congenital cytomegalovirus (cCMV) examinations as well as genetic testing using next\u2010generation sequencing (NGS) targeting 30 deafness genes. The audiological results were compared across different etiologies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Causative genetic variants were identified in 8 (21.1%) patients, including 5 with\n                      <jats:italic>GJB2<\/jats:italic>\n                      variants, 2 with\n                      <jats:italic>PAX3<\/jats:italic>\n                      variants, and 1 with the\n                      <jats:italic>EDNRB<\/jats:italic>\n                      variant.\n                      <jats:italic>GJB2<\/jats:italic>\n                      variants were found to be associated with mild\u2010to\u2010moderate USNHL in various audiogram configurations, whereas\n                      <jats:italic>PAX3<\/jats:italic>\n                      and\n                      <jats:italic>EDNRB<\/jats:italic>\n                      variants were associated with profound USNHL in flat audiogram configurations. In addition, whole\u2010genome sequencing and extended NGS targeting 213 deafness genes were performed in 2 multiplex families compatible with autosomal recessive inheritance; yet no definite causative variants were identified. Cochlear nerve deficiency and cCMV infection were observed in 9 and 2, respectively, patients without definite genetic diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Genetic underpinnings can contribute to approximately 20% of childhood USNHL, and different genotypes are associated with various audiological features. These findings highlight the utility of genetic examinations in guiding the diagnosis, counseling, and treatment of USNHL in children.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ohn.354","type":"journal-article","created":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T05:39:05Z","timestamp":1682919545000},"page":"1299-1308","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss"],"prefix":"10.1002","volume":"169","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9041-7023","authenticated-orcid":false,"given":"Chen\u2010Yu","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital, Hsinchu Branch Hsinchu Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Hsuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Ting","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng\u2010Yu","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Yu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"You\u2010Mei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao\u2010Hsuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun\u2010Yi","family":"Lu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Infectious Diseases, Department of Pediatrics National Taiwan University Hospital Taipei Taiwan"},{"name":"College of Medicine National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tien\u2010Chen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"},{"name":"College of Medicine National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan\u2010Jen","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"},{"name":"Department of Otorhinolaryngology, Taichung Tzu Chi Hospital Buddhist Tzu Chi Medical Foundation Taichung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Lung","family":"Chen","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan"},{"name":"Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob Shujui","family":"Hsu","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen\u2010Chi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan"},{"name":"Department of Medical Research National Taiwan University Hospital, Hsinchu Branch Hsinchu Taiwan"},{"name":"Hearing and Speech Center National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"BessF.Workshop Proceedings: National Workshop on Mild and Unilateral Hearing Loss.2005. 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