title: Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.
abstract: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.
authors.affiliation: Department of Food and Nutrition, Japan Women's University, Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Goseki-Sone
authors.forename: H
authors.initials: H
authors.lastname: Orimo
authors.forename: A
authors.initials: A
authors.lastname: Watanabe
authors.forename: R
authors.initials: R
authors.lastname: Hamatani
authors.forename: M
authors.initials: M
authors.lastname: Yokozeki
authors.forename: K
authors.initials: K
authors.lastname: Ohyama
authors.forename: T
authors.initials: T
authors.lastname: Kuroda
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Miyazaki
authors.forename: T
authors.initials: T
authors.lastname: Shimada
authors.forename: S
authors.initials: S
authors.lastname: Oida
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002968:Clavicle / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D004247:DNA / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008297:Male; D009363:Neoplasm Proteins; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011859:Radiography; D014070:Tooth / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D004247:DNA