Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip

E. Yamachika, H. Tsujigiwa, Y. Ishiwari, N. Mizukawa, N. Nagai, T. Sugahara

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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.

Original languageEnglish
Pages (from-to)381-383
Number of pages3
JournalJournal of Oral Pathology and Medicine
Issue number6
Publication statusPublished - Jul 19 2001



  • CBFA1
  • Cleidocranial dysplasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oral Surgery
  • Otorhinolaryngology
  • Cancer Research
  • Periodontics

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