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The aim of the study is to identify the genetic defect in a family with seven affected individuals segregating autosomal dominant non-syndromic PFE. Whole genome single-nucleotide polymorphism (SNP) genotyping was performed. SNP genotypes were analysed by DominantMapper and multiple shared haplotypes were detected on different chromosomes. Four individuals, including three affected, were exome sequenced. Variants were annotated and data were analysed while considering candidate chromosomal regions. Initial analysis of variants obtained by whole exome sequencing identified damaging variants in <jats:italic>C15orf40<\/jats:italic>, <jats:italic>EPB41L4A, TMEM232, KMT2C<\/jats:italic>, and <jats:italic>FBXW10<\/jats:italic> genes. Sanger sequencing of all family members confirmed segregation of splice acceptor site variant (c.1013-2\u2009A\u2009&gt;\u2009G) in the <jats:italic>KMT2C<\/jats:italic> gene with the phenotype. <jats:italic>KMT2C<\/jats:italic> is considered as a potential candidate gene based on segregation analysis, the absence of variant in the variation databases, the presence of variant in the shared identical by descent (IBD) region and <jats:italic>in silico<\/jats:italic> pathogenicity prediction. KMT2C is a histone methyltransferase and recently the role of another member of this family (KMT2D) has been implicated in tooth development. Moreover, protein structures of KMT2C and KMT2D are highly similar. In conclusion, we have identified that the <jats:italic>KMT2C<\/jats:italic> gene mutation causes familial non-syndromic PFE. These findings suggest the involvement of KMT2C in the physiological eruption of permanent teeth.<\/jats:p>","DOI":"10.1038\/s41598-019-52935-7","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T11:03:16Z","timestamp":1573470196000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption"],"prefix":"10.1038","volume":"9","author":[{"given":"Ali A.","family":"Assiry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia M.","family":"Albalawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad S.","family":"Zafar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siraj D.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anhar","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Almatrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khushnooda","family":"Ramzan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-6825","authenticated-orcid":false,"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,11]]},"reference":[{"key":"52935_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/bs.ctdb.2015.07.006","volume":"115","author":"A Balic","year":"2015","unstructured":"Balic, A. & Thesleff, I. 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