[A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann...

To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).

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.

Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.

The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.