KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.

ABSTRACT: Primary failure of tooth eruption (PFE) is a rare odontogenic defect and is characterized by failure of eruption of one or more permanent teeth. 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 C15orf40, EPB41L4A, TMEM232, KMT2C, and FBXW10 genes. S

SUBMITTER: Assiry AA 

PROVIDER: S-EPMC6848163 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature