Objective: To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).
Methods: Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.
Results: Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.
Conclusion: The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.