Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
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.
Yamachika
E
E
Department of Oral and Maxillofacial Surgery 1, Okayama University Dental School, Japan.
Tsujigiwa
H
H
Ishiwari
Y
Y
Mizukawa
N
N
Nagai
N
N
Sugahara
T
T
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*
D018388:Codon, Terminator; D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D005973:Glutamine; D003596:Cytosine; D013941:Thymine