title: A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation.
abstract: Cleidocranial dysplasia (CCD), which is caused by mutations of the core binding factor alpha 1 (CBFA1)/runt-related gene 2 (Runx2), is an autosomal, dominantly inherited disorder of high penetrance affecting skeletal ossification and tooth development. Recently, we found a novel frameshift mutation 383-T-insertion (S128F) in exon 3 in the CBFA1 gene of a Japanese classic CCD patient. We describe our detailed investigation of the patient with CCD associated with the CBFA1 mutation. The patient showed the characteristic expression of CCD, such as dysplasia of the clavicles, patent fontanelles, short stature, impacted supernumerary teeth, and delayed eruption of the permanent teeth. In addition to these characteristics, orthopantomography delayed ossification of the mandibular symphysis and a three-dimensional computed tomograph (3D-CT) analysis showed hypoplasia of the zygomatic arch. Furthermore, the acellular cementum of an impacted supernumerary tooth was absent in this patient. Thus, the CBFA1 mutation was critical for the pathogenesis of CCD in this patient.
authors.affiliation: Department of Orthodontics, School of Dentistry, University of Tokushima, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yokozeki
authors.forename: K
authors.initials: K
authors.lastname: Ohyama
authors.forename: M
authors.initials: M
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Goseki-Sone
authors.forename: S
authors.initials: S
authors.lastname: Oida
authors.forename: H
authors.initials: H
authors.lastname: Orimo
authors.forename: K
authors.initials: K
authors.lastname: Moriyama
authors.forename: T
authors.initials: T
authors.lastname: Kuroda
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D050660:Core Binding Factors; D005091:Exons; D016368:Frameshift Mutation; D006225:Hand / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins; D010641:Phenotype; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology; D014070:Tooth / Q000000981:diagnostic imaging / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D050660:Core Binding Factors; D009363:Neoplasm Proteins; D014157:Transcription Factors