{"data":{"id":"10.25384/sage.c.4036439.v1","type":"dois","attributes":{"doi":"10.25384/sage.c.4036439.v1","prefix":"10.25384","suffix":"sage.c.4036439.v1","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"M. Koruyucu","affiliation":[],"nameIdentifiers":[]},{"name":"J. Kang","affiliation":[],"nameIdentifiers":[]},{"name":"Y.J. Kim","affiliation":[],"nameIdentifiers":[]},{"name":"F. Seymen","affiliation":[],"nameIdentifiers":[]},{"name":"Y. Kasimoglu","affiliation":[],"nameIdentifiers":[]},{"name":"Z.H. Lee","affiliation":[],"nameIdentifiers":[]},{"name":"T.J. Shin","affiliation":[],"nameIdentifiers":[]},{"name":"H.K. Hyun","affiliation":[],"nameIdentifiers":[]},{"name":"S.H. Lee","affiliation":[],"nameIdentifiers":[]},{"name":"J.C.C. Hu","affiliation":[],"nameIdentifiers":[]},{"name":"J.P. Simmer","affiliation":[],"nameIdentifiers":[]},{"name":"J.W. Kim","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Hypoplastic AI with Highly Variable Expressivity Caused by \u003ci\u003eENAM\u003c/i\u003e Mutations"}],"publisher":"Figshare","container":{},"publicationYear":2018,"subjects":[{"subject":"110599 Dentistry not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Clinical medicine","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"91299 Materials Engineering not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Materials engineering","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"}],"contributors":[],"dates":[{"date":"2018-03-20","dateType":"Created"},{"date":"2018-03-20","dateType":"Updated"},{"date":"2018","dateType":"Issued"}],"language":null,"types":{"ris":"GEN","bibtex":"misc","citeproc":"article","schemaOrg":"Collection","resourceType":"Collection","resourceTypeGeneral":"Collection"},"relatedIdentifiers":[{"relationType":"IsSupplementTo","relatedIdentifier":"10.1177/0022034518763152","relatedIdentifierType":"DOI"},{"relationType":"IsIdenticalTo","relatedIdentifier":"10.25384/sage.c.4036439","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":[],"formats":[],"version":null,"rightsList":[{"rights":"CC BY 4.0","rightsUri":"https://creativecommons.org/licenses/by/4.0"}],"descriptions":[{"description":"Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel \u003ci\u003eENAM\u003c/i\u003e mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T\u0026gt;G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth. Family 2 had a nonsense mutation in the last exon, c.1842C\u0026gt;G, p.(Tyr614*), that was predicted to truncate the protein by 500 amino acids. Participating individuals had at least 1 mutant allele, while the proband had a homozygous mutation. Most interestingly, the clinical phenotype of the individuals harboring the heterozygous mutation varied from a lack of penetrance to a mild hypoplastic enamel defect. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by \u003ci\u003eENAM\u003c/i\u003e mutations.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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