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


CONCLUSIONS
The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.
Liang
Yue-hong
YH
Human Reproductive and Stem Cell Engineering Institute, Central South University, Changsha, Hunan, 410008 PR China.
Li
Wen
W
Li
Lu-yun
LY
Ye
Yi-yan
YY
Lu
Guang-xiu
GX
D001483:Base Sequence; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D002681:China; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
D053773:Transforming Growth Factor beta1