RESUMO
Objective: To analyze mutations of RUNX2 gene in a Chinese family with CCD. Methods: The proband and her parents were investigated in the present study. Radiological examination regarding osseous malformations was carried out over the entire body. Genomic DNA was extracted from whole blood, and the RUNX2 gene was amplified by PCR from genomic DNA. 100 healthy people were also included. DNA sequences were analyzed by using BLASTN (BLAST nucleotide) program. Results: Both the proband and her mother have typical CCD clinical characteristics, different from her healthy father. After BLASTN analysis, one novel mutation was identified in the proband and her mother, a heterozygous A to G transition mutation at nucleotide 478 in exon 2, which converted asparagines to aspartic acid at codon 160 (478 A>G,N160D). Conclusion: The N160D mutation is identified as a novel heterozygous mutation, which supplements the data of RUNX2 gene mutation research.