title: Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.
abstract: Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.
authors.forename: Malavika
authors.initials: M
authors.lastname: Hebbar
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Udupi, Karnataka, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
authors.affiliation: Department of Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
mesh_terms: D000328:Adult; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D010641:Phenotype
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit