{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T05:09:42Z","timestamp":1694581782665},"reference-count":25,"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>This study reports on a clinical investigation of a Dutch family that shows suggestive linkage to <jats:italic>OTSC7<\/jats:italic>. Cross\u2010sectional as well as longitudinal analyses of audiometric data were performed. Also, high\u2010resolution computed tomography (CT) images of the temporal bones from genetically affected family members were obtained to study the incidence and extent of otospongiotic foci. Audiometric data showed a considerable degree of phenotypic variability. Cross\u2010sectional regression analysis did not show age\u2010dependent progression of bone conduction (BC), air conduction (AC), and air\u2010bone gap (ABG) levels. Longitudinal analysis of audiometric follow\u2010up data of one family member showed age\u2010dependent progression of AC, BC, and ABG levels. High\u2010resolution CT images revealed an otospongiotic focus in six of six (100%) clinically affected individuals that carried the disease haplotype. In none of the clinically unaffected family members that showed linkage to <jats:italic>OTSC7<\/jats:italic>, an otospongiotic focus was detected by CT. In conclusion, hearing impairment in the present otosclerosis family seems to be variable in terms of onset age and level of progression. Long\u2010term audiometric data of one patient proved to be valuable in understanding progression of hearing impairment in this individual. The detection rate of otospongiotic foci in our study group is similar compared to previous reports on CT data in consecutive otosclerosis patients who had stapes replacing surgery. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31807","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T04:57:23Z","timestamp":1181797043000},"page":"1613-1622","source":"Crossref","is-referenced-by-count":3,"title":["Phenotype description of a Dutch otosclerosis family with suggestive linkage to <i>OTSC7<\/i>"],"prefix":"10.1002","volume":"143A","author":[{"given":"Robert Jan","family":"Pauw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick L.M.","family":"Huygen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Thys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Van Camp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank B.M.","family":"Joosten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cor W.R.J.","family":"Cremers","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\/000348948409300104"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.132.4.416"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.473"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200103000-00023"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200109000-00006"},{"key":"e_1_2_6_7_1","first-page":"114","article-title":"Phenotype\u2010genotype correlations in otosclerosis: Clinical features of OTSC2","volume":"65","author":"Declau F","year":"2007","journal-title":"Adv Otorhinolaryngol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1966.00760020326006"},{"key":"e_1_2_6_9_1","first-page":"426","article-title":"The genetics of otosclerosis: A review","volume":"10","author":"Gordon MA","year":"1989","journal-title":"Am J Otol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/16513860310003049"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.08.012"},{"key":"e_1_2_6_12_1","unstructured":"International Organization for Standardization.1984.Acoustics: Threshold of hearing by air conduction as a function of age and sex for otologically normal persons. 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