Exclusion of Candidate Genes in Seven Turkish Families With Autosomal Recessive Amelogenesis Imperfecta

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dc.contributor.authorBecerik, Sema
dc.contributor.authorCogulu, Dilsah
dc.contributor.authorEmingil, Guelnur
dc.contributor.authorHan, Ted
dc.contributor.authorHart, P. Suzanne
dc.contributor.authorHart, Thomas C.
dc.date.accessioned2019-10-27T20:50:33Z
dc.date.available2019-10-27T20:50:33Z
dc.date.issued2009
dc.departmentEge Üniversitesien_US
dc.description.abstractAmelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 min and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families. (C) 2009 Wiley-Liss, Inc.en_US
dc.description.sponsorshipIntramural NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [Z99 HG999999]en_US
dc.identifier.doi10.1002/ajmg.a.32885en_US
dc.identifier.endpage1398en_US
dc.identifier.issn1552-4825
dc.identifier.issue7en_US
dc.identifier.pmid19530186en_US
dc.identifier.startpage1392en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.32885
dc.identifier.urihttps://hdl.handle.net/11454/43010
dc.identifier.volume149Aen_US
dc.identifier.wosWOS:000267770000004en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWiley-Lissen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectautosomal recessive amelogenesis imperfectaen_US
dc.subjectAMBNen_US
dc.subjectAMELXen_US
dc.subjectENAMen_US
dc.subjectFAM83Hen_US
dc.subjectKLK4en_US
dc.subjectMMP20en_US
dc.subjectTUFT1en_US
dc.titleExclusion of Candidate Genes in Seven Turkish Families With Autosomal Recessive Amelogenesis Imperfectaen_US
dc.typeArticleen_US

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