{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:28:32Z","timestamp":1791325712995,"version":"4.3.1"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,4,23]],"date-time":"2008-04-23T00:00:00Z","timestamp":1208908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:p>Homozygous mutations in the fibroblast growth factor 3 (<jats:italic>FGF3<\/jats:italic>) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 \u2013 LAMM). In order to better characterize the phenotypic spectrum associated with <jats:italic>FGF3 <\/jats:italic>mutations, we sequenced the <jats:italic>FGF3 <\/jats:italic>gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. <jats:italic>FGF3 <\/jats:italic>sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous <jats:italic>FGF3 <\/jats:italic>mutations, p.Leu6Pro (c.17T&gt;C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co\u2010segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with <jats:italic>FGF3 <\/jats:italic>mutations. However, similar venous anomalies were also detected in persons with non\u2010syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01004.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:19:28Z","timestamp":1232705968000},"page":"554-565","source":"Crossref","is-referenced-by-count":49,"title":["Homozygous <i>FGF3 <\/i>mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia"],"prefix":"10.1111","volume":"73","author":[{"given":"M","family":"Tekin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"\u00d6zt\u00fcrkmen 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