{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T23:18:39Z","timestamp":1770333519363,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2007,6,13]],"date-time":"2007-06-13T00:00:00Z","timestamp":1181692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3\u20130.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic>, and <jats:italic>NOG<\/jats:italic> gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the <jats:italic>OTSC3<\/jats:italic> region on chromosome 6p21.3\u2013p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31806","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T05:01:08Z","timestamp":1181797268000},"page":"1653-1660","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and genetic analysis of two Tunisian otosclerosis families"],"prefix":"10.1002","volume":"143A","author":[{"given":"Insaf Bel Hadj","family":"Ali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Thys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najeh","family":"Beltaief","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nele","family":"Dieltjens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Vanderstraeten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghazi","family":"Besbes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emna","family":"Mnif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Slah","family":"Hachicha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa\u00efda Ben","family":"Arab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy Van","family":"Camp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948409300201"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/neg.16.1.65.71-1"},{"key":"e_1_2_6_4_1","first-page":"111","article-title":"A genetic study of otosclerosis in a population living in the north of Tunisia","volume":"36","author":"Ben Arab S","year":"1993","journal-title":"Ann Genet"},{"key":"e_1_2_6_5_1","first-page":"19","article-title":"Otosclerosis in populations living in northern Tunisia: Epidemiology and etiology","volume":"118","author":"Ben Arab S","year":"2001","journal-title":"Ann Otolaryngol Chir Cervicofac"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.132.4.416"},{"key":"e_1_2_6_7_1","first-page":"211","article-title":"Otospongiosis as a genetic disease. 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