title: A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
abstract: The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3&emsp14;years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8&emsp14;years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association.
authors.affiliation: Institute for Maternal and Child Health--IRCCS Burlo Garofolo, Trieste, Italy. mcallea@gmail.com
authors.forename: Michele
authors.initials: M
authors.lastname: Callea
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.forename: Izzet
authors.initials: I
authors.lastname: Yavuz
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000848:Anodontia / Q000235:genetics; D002648:Child; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D014096:Tooth, Supernumerary / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human