Alteration of exon definition causes amelogenesis imperfecta

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dc.authorid0000-0002-8440-367X
dc.contributor.authorKim, Young-jae
dc.contributor.authorKang, Jenny
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorZhang, Hong
dc.contributor.authorKasımo?lu, Yelda
dc.contributor.authorBayram, Merve
dc.contributor.authorTuna-İnce, Elif Bahar
dc.contributor.authorBayrak, Şule
dc.contributor.authorTüloğlu, Nuray
dc.contributor.authorHu, Jan C.
dc.contributor.authorSimmer, James P.
dc.contributor.authorKim, Jung-Wook
dc.date.accessioned2020-04-17T13:05:54Z
dc.date.available2020-04-17T13:05:54Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Ana Bilim Dalı
dc.description.abstractAmelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mutations cosegregated with the AI phenotype in all recruited members of each family. The AI-causing mutations in family 1 were a novel AMELX mutation [NM_182680.1:c.143T>C, p.(Leu48Ser)] in the proband and a novel homozygous MMP20 mutation [NM_004771.3:c.616G>A, p.(Asp206Asn)] in the mother of the proband. Previously reported compound heterozygous MMP20 mutations [NM_004771.3:c.103A>C, p.(Arg35=) and c.389C>T, p.(Thr130Ile)] caused the AI in family 2 and family 3. Minigene splicing analyses revealed that the AMELX missense mutation increased exonic definition of exon 4 and the MMP20 synonymous mutation decreased exonic definition of exon 1. These mutations would trigger an alteration of exon usage during RNA splicing, causing the enamel malformations. These results broaden our understanding of molecular genetic pathology of tooth enamel formation.
dc.identifier.citationKim, Y.-j., Kang, J., Seymen, F., Koruyucu, M., Zhang, H., Kasımo?lu, Y. ... Kim, J.-W. (2020). Alteration of exon definition causes amelogenesis imperfecta. Journal of Dental Research, 99(4), 410-418. https://dx.doi.org/10.1177/0022034520901708
dc.identifier.doi10.1177/0022034520901708
dc.identifier.endpage418
dc.identifier.issn0022-0345
dc.identifier.issn1544-0591
dc.identifier.issue4
dc.identifier.scopusqualityQ1
dc.identifier.startpage410
dc.identifier.urihttps://hdl.handle.net/20.500.12511/5155
dc.identifier.urihttps://dx.doi.org/10.1177/0022034520901708
dc.identifier.volume99
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSAGE Publications Inc.
dc.relation.ecinfo:eu-repo/grantAgreement/EC/FP7/NRF-2017R1A2A2A05069281
dc.relation.ecinfo:eu-repo/grantAgreement/EC/FP7/NRF-2018R1A5A2024418
dc.relation.ecinfo:eu-repo/grantAgreement/EC/FP7/DE015846
dc.relation.ispartofJournal of Dental Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectSilent Mutation
dc.subjectEnamel
dc.subjectTooth
dc.subjectAMELX
dc.subjectMMP20
dc.subjectExon Skipping
dc.titleAlteration of exon definition causes amelogenesis imperfecta
dc.typeArticle

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