{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:41:49Z","timestamp":1790473309184,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,30]],"date-time":"2018-04-30T00:00:00Z","timestamp":1525046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health & Welfare, Republic of Korea","award":["HI15C1632\/ HI17C0952"],"award-info":[{"award-number":["HI15C1632\/ HI17C0952"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>MYO6<\/jats:italic> gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal dominant (AD) (DFNA22) or recessive form. The present study identified <jats:italic>MYO6<\/jats:italic> variants in the cohort of Korean AD NSHL families and investigated the audiological phenotypes of DFNA22 with respect to suggesting clinical guides for the counseling of DFNA22.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective cohort study was performed on 81\u00a0AD NSHL families in two hospitals. Among them, five families (SH21, SB60, SB247, SB290 and SB305) segregating with <jats:italic>MYO6<\/jats:italic> variant were genetically and clinically assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified two novel missense variants of <jats:italic>MYO6<\/jats:italic>: p.G223R (SB290) and p.T158R (SB305). A known heterozygous truncation variant, p.R205X, reported previously (SH21, SB60), was identified (SB247). The overall frequency of DFNA22 among such cases was 6.2%. Specifically, we found p.R205X from three of five DFNA22 families (60%). Five DFNA22 families demonstrated extremely diverse audiogram configurations and age of onset with even intrafamilial variations, whereas the severity of hearing loss mostly ranged within moderate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a recurring predominant allele and two new missense variants of <jats:italic>MYO6<\/jats:italic>, highlighting the significant contribution of <jats:italic>MYO6<\/jats:italic> to AD NSHL in the Korean population. Extremely diverse audiological configurations of DFNA22 suggest that <jats:italic>MYO6<\/jats:italic> should be considered in future genetic studies of patients with AD NSHL. Gradual progression with a good speech audiometry score could provide physicians with clinical insight with respect to advising patients to use hearing aids or consider middle ear implants, whereas, in the case of certain exceptional circumstances, physicians could provide patients with the option to consider a cochlear implant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3019","type":"journal-article","created":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T02:14:26Z","timestamp":1522635266000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study"],"prefix":"10.1002","volume":"20","author":[{"given":"Bong Jik","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Chungnam National University College of Medicine  Daejeon Korea"},{"name":"Department of Otorhinolaryngology Seoul National University Bundang Hospital  Seongnam Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Hee","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Seoul National University Bundang Hospital  Seongnam Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye\u2010Rim","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Seoul National University Bundang Hospital  Seongnam Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Seoul National University Bundang Hospital  Seongnam Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah Reum","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Seoul National 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