A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.</p><p><b>CONCLUSION</b>The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.</p>