A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease.
- Author:
Yue-hong LIANG
1
;
Wen LI
;
Lu-yun LI
;
Yi-yan YE
;
Guang-xiu LU
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Camurati-Engelmann Syndrome; genetics; China; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Humans; Male; Mutation; Polymerase Chain Reaction; Transforming Growth Factor beta1; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2006;23(5):502-504
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).
METHODSDenaturing 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.
RESULTSMutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.
CONCLUSIONThe identification of the mutation could provide essential data for subsequent therapy and genetic counseling.
