title: A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
abstract: Cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. Recently, various mutations of the core binding factor (CBFA1) gene have been detected in CCD patients. The CBFA1 gene is a member of the runt family of transcription factors. We experienced one Japanese case of CCD with open sutures, hypoplasia of clavicles and brachydactyly, combined with atlant-axis dislocation. We performed the sequence analysis of the CBFA1 gene and detected a missense mutation of R225W in exon 3.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Kitasato University School of Medicine, 1-15-1 Kitasato, Sagamihara, Kanagawa 228-8555, Japan. kprs@kitasato-u.ac.jp
authors.forename: Naohiko
authors.initials: N
authors.lastname: Sakai
authors.forename: Hitomi
authors.initials: H
authors.lastname: Hasegawa
authors.forename: Yasuharu
authors.initials: Y
authors.lastname: Yamazaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Ui
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Hirose
authors.forename: Eiju
authors.initials: E
authors.lastname: Uchinuma
authors.forename: Takafumi
authors.initials: T
authors.lastname: Susami
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Takato
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D050660:Core Binding Factors; D004252:DNA Mutational Analysis; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D009363:Neoplasm Proteins; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D050660:Core Binding Factors; D009363:Neoplasm Proteins; D014157:Transcription Factors; D014364:Tryptophan; D001120:Arginine