title: Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
abstract: We examined a patient with cleidocranial dysplasia (CCD) and cleft lip and found a new stop codon mutation in CBFA1. This mutation was a heterozygous C-to-T transition in exon 3 of CBFA1. This nucleotide change converts a CAA codon to a TAA (stop) codon at amino acid position Gln195 in the runt domain of CBFA1.
authors.affiliation: Department of Oral and Maxillofacial Surgery 1, Okayama University Dental School, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Yamachika
authors.forename: H
authors.initials: H
authors.lastname: Tsujigiwa
authors.forename: Y
authors.initials: Y
authors.lastname: Ishiwari
authors.forename: N
authors.initials: N
authors.lastname: Mizukawa
authors.forename: N
authors.initials: N
authors.lastname: Nagai
authors.forename: T
authors.initials: T
authors.lastname: Sugahara
mesh_terms: D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005973:Glutamine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins; D017354:Point Mutation / Q000235:genetics*; D013941:Thymine; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D005973:Glutamine; D003596:Cytosine; D013941:Thymine