Novel WDR72 mutations causing hypomaturation amelogenesis imperfecta

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dc.contributor.authorKim, Youn Jung
dc.contributor.authorZhang, Hong
dc.contributor.authorLee, Yejin
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorKasımoğlu, Yelda
dc.contributor.authorSimmer, James P.
dc.contributor.authorHu, Jan C-C
dc.contributor.authorKim, Jung-Wook
dc.date.accessioned2023-03-01T06:18:56Z
dc.date.available2023-03-01T06:18:56Z
dc.date.issued2023en_US
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Ana Bilim Dalıen_US
dc.description.abstractAmelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and diseasecausing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72 structure and function are discussed. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects.en_US
dc.identifier.citationKim, Y. J., Zhang, H., Lee, Y., Seymen, F., Koruyucu, M., Kasımoğlu, Y., Simmer, J., Hu, J. C-C., Kim, J. W. (2023). Novel WDR72 mutations causing hypomaturation amelogenesis imperfecta. Journal of Personalized Medicine, 13(2), 326.en_US
dc.identifier.issn2075-4426
dc.identifier.issn2075-4426
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85148937930
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://hdl.handle.net/20.500.12939/3425
dc.identifier.volume13en_US
dc.identifier.wosWOS:000940386600001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorSeymen, Figen
dc.language.isoen
dc.relation.ispartofJournal of Personalized Medicine
dc.relation.isversionof10.3390/jpm13020326en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHereditaryen_US
dc.subjectMutationen_US
dc.subjectWDR72en_US
dc.subjectExon Deletionen_US
dc.subjectEnamel Defectsen_US
dc.titleNovel WDR72 mutations causing hypomaturation amelogenesis imperfecta
dc.typeArticle

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