{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T11:31:18Z","timestamp":1786447878137,"version":"build-2736575974"},"reference-count":37,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82371141"],"award-info":[{"award-number":["82371141"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82430037"],"award-info":[{"award-number":["82430037"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82501397"],"award-info":[{"award-number":["82501397"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"award":["82371141"],"award-info":[{"award-number":["82371141"]}],"id":[{"id":"https:\/\/ror.org\/01h0zpd94","id-type":"ROR","asserted-by":"publisher"}]},{"award":["82430037"],"award-info":[{"award-number":["82430037"]}],"id":[{"id":"https:\/\/ror.org\/01h0zpd94","id-type":"ROR","asserted-by":"publisher"}]},{"award":["82501397"],"award-info":[{"award-number":["82501397"]}],"id":[{"id":"https:\/\/ror.org\/01h0zpd94","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Clinical Research Project of Shanghai Municipal Health Commission","award":["202240003"],"award-info":[{"award-number":["202240003"]}]},{"name":"Graduate Curriculum Construction Project of Shanghai Jiao Tong University School of Medicine","award":["YK202406"],"award-info":[{"award-number":["YK202406"]}]},{"award":["YK202406"],"award-info":[{"award-number":["YK202406"]}],"id":[{"id":"https:\/\/ror.org\/0220qvk04","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Excellent Physician-Scientist Project of the Ninth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine"},{"name":"National High-Level Medical Talent Program"},{"name":"Shanghai Oriental Talent Team Youth Programs"},{"DOI":"10.13039\/100020737","name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases","doi-asserted-by":"crossref","award":["14DZ2260300"],"award-info":[{"award-number":["14DZ2260300"]}],"id":[{"id":"10.13039\/100020737","id-type":"DOI","asserted-by":"crossref"}]},{"award":["14DZ2260300"],"award-info":[{"award-number":["14DZ2260300"]}],"id":[{"id":"https:\/\/ror.org\/04nxh2s35","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Branchio-oto syndrome (BOS) is an autosomal dominant disorder primarily associated with pathogenic variants in EYA1, mainly characterized by branchial anomalies, auricular abnormalities, and hearing loss. However, the co-occurrence of inner ear malformations in BOS remains understudied, especially severe malformations. This study aimed to investigate the clinical and genetic characteristics of patients with EYA1-associated BOS, with emphasis on cochlear nerve deficiency (CND). Methods: From January 2020 to April 2026, patients diagnosed with EYA1-associated BOS at an otology outpatient clinic in a tertiary hospital were included. Clinical manifestations, audiological assessments, imaging and genetic findings were analyzed. Results: Thirteen patients (six females and seven males) from eight unrelated families aged 0.3\u201358.3 years were enrolled. Branchial cleft fistulas and preauricular pits were each observed in 76.9% (10\/13) of patients. The mean pure-tone average was 74.3 \u00b1 20.7 dB HL. Eight EYA1 variants (four truncating, two large deletions, and two splicing) were identified. Among these, five were novel (c.320_329del, c.518del, c.1307dupT, c.1475+1G&gt;A, and exon 12\u201318 deletion). CND was detected in 38.5% (5\/13) of patients and 26.9% (7\/26) of ears. Patients with CND carried either truncating variants (n = 3) or large deletions (n = 2) of EYA1. No CND was observed in patients with splicing variants. Conclusions: This study identifies five novel EYA1 pathogenic variants and suggests that CND may be a relatively common radiologic feature in EYA1-associated BOS, particularly among patients with truncating variants or large deletions, although larger studies are needed to confirm this association.<\/jats:p>","DOI":"10.3390\/diagnostics16152480","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T09:46:38Z","timestamp":1786009598000},"page":"2480","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Features in EYA1-Associated Branchio-Oto Syndrome: Cochlear Nerve Deficiency in Five of Thirteen Patients"],"prefix":"10.3390","volume":"16","author":[{"given":"Yirong","family":"Niu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7128-3795","authenticated-orcid":false,"given":"Yun","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiali","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"},{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huanhuan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"},{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8703-6950","authenticated-orcid":false,"given":"Yuting","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeqi","family":"An","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3236-1313","authenticated-orcid":false,"given":"Kun","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"},{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"},{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"},{"name":"Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"},{"name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai 200125, China"},{"name":"Department of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhili","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People\u2019s 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of Audiology & Speech-Language Pathology, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014A silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. 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