Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

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dc.contributor.authorTekin, M.
dc.contributor.authorAkay, H. Oeztuerkmen
dc.contributor.authorFitoz, S.
dc.contributor.authorBirnbaum, S.
dc.contributor.authorCengiz, F. B.
dc.contributor.authorSennaroglu, L.
dc.contributor.authorIncesulu, A.
dc.date.accessioned2024-04-24T17:11:31Z
dc.date.available2024-04-24T17:11:31Z
dc.date.issued2008
dc.departmentDicle Üniversitesien_US
dc.description.abstractHomozygous mutations in the fibroblast growth factor 3 (FGF3) 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 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 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. FGF3 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 FGF3 mutations, p.Leu6Pro (c.17T > 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-segregated 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 FGF3 mutations. However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.en_US
dc.identifier.doi10.1111/j.1399-0004.2008.01004.x
dc.identifier.endpage565en_US
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue6en_US
dc.identifier.pmid18435799
dc.identifier.scopus2-s2.0-43449118688
dc.identifier.scopusqualityQ2
dc.identifier.startpage554en_US
dc.identifier.urihttps://doi.org/10.1111/j.1399-0004.2008.01004.x
dc.identifier.urihttps://hdl.handle.net/11468/17576
dc.identifier.volume73en_US
dc.identifier.wosWOS:000255819000008
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDeafnessen_US
dc.subjectFgf3en_US
dc.subjectHearing Lossen_US
dc.subjectMicrotiaen_US
dc.subjectMicrodontiaen_US
dc.subjectMichel Aplasiaen_US
dc.titleHomozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontiaen_US
dc.titleHomozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
dc.typeArticleen_US

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