{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:36:37Z","timestamp":1792305397557,"version":"4.4.0"},"reference-count":26,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:p>Clinical otosclerosis (OMIM 166800\/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular chain mobility results in a conductive hearing loss.<\/jats:p>\n               <jats:p>We identified the first locus for otosclerosis (<jats:italic>OTSC1<\/jats:italic>) on chromosome 15 in 1998 and reported a second locus (<jats:italic>OTSC2<\/jats:italic>) on chromosome 7 last year. Here we present results of a genome wide linkage study on a large Cypriot family segregating otosclerosis. Results of this study exclude linkage to <jats:italic>OTSC1<\/jats:italic> and <jats:italic>OTSC2<\/jats:italic> and identify a third locus, <jats:italic>OTSC3<\/jats:italic>, on chromosome 6p. The defined <jats:italic>OTSC3<\/jats:italic> interval covers the HLA region, consistent with reported associations between HLA-A\/HLA-B antigens and otosclerosis.<\/jats:p>","DOI":"10.1136\/jmg.39.7.473","type":"journal-article","created":{"date-parts":[[2002,7,28]],"date-time":"2002-07-28T19:09:06Z","timestamp":1027883346000},"page":"473-477","source":"Crossref","is-referenced-by-count":68,"title":["Linkage of otosclerosis to a third locus (<i>OTSC3<\/i>) on human chromosome 6p21.3-22.3"],"prefix":"10.1136","volume":"39","author":[{"given":"W","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G E","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Van Den Bogaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Komodikis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L S","family":"Manolidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Aconomou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Kyamides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Faghel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Gigu\u00e9re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"Alford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Manolidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Van Camp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R J H","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,7,1]]},"reference":[{"key":"2025101710401631000_39.7.473.1","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.3109\/00016489109100763","volume":"111","year":"1991","journal-title":"Acta Otolaryngol"},{"key":"2025101710401631000_39.7.473.2","first-page":"426","volume":"10","year":"1989","journal-title":"Am J Otol"},{"key":"2025101710401631000_39.7.473.3","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1177\/019459989110500308","volume":"105","year":"1991","journal-title":"Otolaryngol Head Neck Surg"},{"key":"2025101710401631000_39.7.473.4","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1177\/000348948409300104","volume":"93","year":"1984","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"2025101710401631000_39.7.473.5","first-page":"536","volume":"15","year":"1994","journal-title":"Am J Otol"},{"key":"2025101710401631000_39.7.473.6","first-page":"15","volume":"110","year":"1922","journal-title":"Arch Ohrenheilk Nas Kehlkopfheilk"},{"key":"2025101710401631000_39.7.473.7","first-page":"1","volume":"154","year":"1960","journal-title":"Acta Otolaryngol"},{"key":"2025101710401631000_39.7.473.8","unstructured":"Larsson A. Genetic problems in otosclerosis. In: Schuknecth HF, ed. Otosclerosis. Boston: Little Brown, 1962:109-17."},{"key":"2025101710401631000_39.7.473.9","first-page":"202","volume":"41","year":"1967","journal-title":"Ann R Coll Surg Engl"},{"key":"2025101710401631000_39.7.473.10","first-page":"211","volume":"5","year":"1984","journal-title":"Am J Otol"},{"key":"2025101710401631000_39.7.473.11","first-page":"111","volume":"36","year":"1993","journal-title":"Ann Genet Hum"},{"key":"2025101710401631000_39.7.473.12","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200109000-00006"},{"key":"2025101710401631000_39.7.473.13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.285"},{"key":"2025101710401631000_39.7.473.14","doi-asserted-by":"publisher","DOI":"10.1086\/318185"},{"key":"2025101710401631000_39.7.473.15","unstructured":"Van den Bogaert K, Govaerts PJ, Els MR, De Leenheer E, Schatteman I, Verstreken M, Chen W, Declau F, Cor F, Cremers WRJ, Van de Heyning PH, Offeciers EF, Somers T, Smith RJH, Van Camp G. Otosclerosis - a genetically heterogeneous disease involving at least 3 different genes. Bone (in press)."},{"key":"2025101710401631000_39.7.473.16","first-page":"252","volume":"53","year":"1993","journal-title":"Am J Hum Genet"},{"key":"2025101710401631000_39.7.473.17","unstructured":"Schuknecht HF. Pathology of the ear. 2nd ed. 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