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

J Oral Pathol Med. 2001 Jul;30(6):381-3. doi: 10.1034/j.1600-0714.2001.300610.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cleft Lip / genetics*
  • Cleidocranial Dysplasia / genetics*
  • Codon, Terminator / genetics*
  • Core Binding Factor Alpha 1 Subunit
  • Cytosine
  • Exons / genetics
  • Glutamine / genetics
  • Heterozygote
  • Humans
  • Male
  • Neoplasm Proteins*
  • Point Mutation / genetics*
  • Thymine
  • Transcription Factors / genetics*

Substances

  • Codon, Terminator
  • Core Binding Factor Alpha 1 Subunit
  • Neoplasm Proteins
  • Transcription Factors
  • Glutamine
  • Cytosine
  • Thymine