OBJECTIVETo study gene mutation in Chinese patients with cleidocranial dysplasia.

METHODSA three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members. Direct sequencing of the PCR products of the coding region of CBFA1 gene was used to identify the mutations.

RESULTSIn each patient of the family, a heterozygous missense mutation, cDNA 674 G > A (R225Q), was detected in CBFA1 exon 3. The mutation changed the sequence in runt domain of the protein.

CONCLUSIONSOur findings indicate that mutation in CBFA1 is responsible for the tooth agenesis and other phenotypes of cleidocranial dysplasia in this Chinese family. The mutation detection could be applied in prenatal diagnosis for the family.