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