Phenotypic variability in LAMA3-associated amelogenesis imperfecta

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dc.contributor.authorWang,Shih-Kai
dc.contributor.authorZhang, Hong
dc.contributor.authorWang, Yin-Lin
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorSimmer, James P.
dc.contributor.authorHu, Jan C-C
dc.date.accessioned2022-11-13T07:31:52Z
dc.date.available2022-11-13T07:31:52Z
dc.date.issued2022en_US
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Ana Bilim Dalıen_US
dc.description.abstractObjective: Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds. Materials and methods: Whole exome analyses were conducted to search for sequence variants associated with the disorder, and micro-computed tomography (μCT) to characterize the enamel defects. Results: The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were also observed and demonstrated by μCT analyses of affected teeth. Four disease-causing LAMA3 mutations (NM_198129.4:c.3712dup; c.5891dup; c.7367del; c.9400G>C) were identified. Compound heterozygous MMP20 mutations (NM_004771.4:c.539A>G; c.692C>T) were also found in one proband with more severe enamel defects, suggesting a mutational synergism on disease phenotypes. Further analyses of the AI-causing mutations suggested that both α3A (short) and α3B (long) isoforms of LAMA3 are essential for enamel formation. Conclusions: Heterozygous LAMA3 mutations can cause generalized enamel defects (AI1A) with variable expressivity. Laminin-332 is critical not only for appositional growth but also enamel maturation.en_US
dc.identifier.citationWang, S. K., Zhang, H., Wang, Y. L., Seymen, F., Koruyucu, M., Simmer, J. P., & Hu, J. C. C. (2022). Phenotypic variability in LAMA3‐associated amelogenesis imperfecta. Oral Diseases, 29(8), 3514-3524.en_US
dc.identifier.endpage3524en_US
dc.identifier.issue8en_US
dc.identifier.scopus2-s2.0-85142288476
dc.identifier.scopusqualityQ1
dc.identifier.startpage3514en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12939/2995
dc.identifier.volume29en_US
dc.identifier.wosWOS:000884589700001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorSeymen, Figen
dc.language.isoen
dc.relation.ispartofOral Diseases
dc.relation.isversionof10.1111/odi.14425en_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMMP20en_US
dc.subjectComputed Tomographyen_US
dc.subjectDental Enamelen_US
dc.subjectJunctional Epidermolysis Bullosaen_US
dc.subjectLamininen_US
dc.subjectMutationen_US
dc.titlePhenotypic variability in LAMA3-associated amelogenesis imperfecta
dc.typeArticle

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