{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T06:18:14Z","timestamp":1780121894064,"version":"3.54.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Autosomal dominant non\u2010syndromic hearing loss is a common sensorineural disorder with extremely high genetic heterogeneity. CEA antigen\u2010related cell adhesion molecule 16(CEACAM16)is a secreted glycoprotein encoded by the CEACAM16 gene. Mutations in CEACAM16 lead to autosomal dominant non\u2010syndromic hearing loss in humans, due defects in the tectorial membrane of the inner ear. Here we reported a novel missense variant in CEACAM16 gene causes autosomal dominant non\u2010syndromic hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>A four\u2010generation Chinese family affected by late\u2010onset and progressive hearing loss was enrolled in this study. The proband was analyzed by targeted next\u2010generation sequencing and bioinformatic analysis. And in vitro experiments were performed in overexpressed transfected HEK293T cells to investigate the pathogenesis of the mutant protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel missense variant in the CEACAM16 gene c.763A&gt;G; (p.Arg255Gly) as causing autosomal dominant non\u2010syndromic hearing loss in the Chinese family. Using Western blot analysis, ELISA, and immunofluorescence we found increased expression level of the secreted mutant CEACAM16 protein, both intracellularly and extracellularly, compared with wild type CEACAM16 protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study showed that the p.Arg255Gly variant leads to increased secretion of mutant CEACAM16 protein, with potential deleterious effect to the function of the protein. Our findings expand the mutation spectrum of CEACAM16, and further the understanding CEACAM16 function and implications in disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12463","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T08:26:21Z","timestamp":1647419181000},"page":"207-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel missense variant in <i>CEACAM16<\/i> gene causes autosomal dominant nonsyndromic hearing loss"],"prefix":"10.1111","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0951-9637","authenticated-orcid":false,"given":"Dejun","family":"Zhang","sequence":"first","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital  Beijing China"},{"name":"Department of Otolaryngology Head and Neck Surgery The Second Hospital of Jilin University  Changchun China"},{"name":"State Key Lab of Hearing 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Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment for Prevention and Treatment  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, National Children's Medical Center\/Beijing Children's Hospital Capital Medical University  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology PLA Rocket Force Characteristic Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyu","family":"Han","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital  Beijing China"},{"name":"State Key Lab of Hearing Science, Ministry of Education National Clinical Research Center for 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