A novel missense mutation of the CBFA1 gene in a family with cleidocranialdysplasia (CCD) and variable expressivity

The aim of this study was to analyze the CBFA1 gene in a phenotypically var iable family with autosomal dominant cleidocranial dysplasia (CCD). Five me mbers of a family with CCD were characterized clinically. X-rays and photog raphs of the two clinically affected family members were taken. The genotyp e of all five affected family members was determined with the use of single strand conformation polymorphism (SSCP) and direct sequencing. A point-mut ation in exon 2 (R148G) was detected in a patient with the full-blown clini cal phenotype. His son, demonstrating the same mutation, showed only the de ntal CCD characteristics. No mutation could be found in the three clinicall y healthy family members. To conclude, a missense mutation in the CBFA1 gen e was detected in a family with variably expressed CCD syndrome. A detailed clinical examination is necessary to detect minimally affected gene mutati on carriers.