Mutation in TGFB1 Causes Rare Progressive Diaphyseal Dysplasia
10.3969/j.issn.1674-9081.2015.05.003
- VernacularTitle:TGFB1基因突变导致罕见进行性骨干发育不良
- Author:
Xiao-Jie XU
1
;
Dou-Dou MA
;
Fang LÜ
;
Yi LIU
;
Jian-Yi WANG
;
Yan JIANG
;
Ou WANG
;
Wei-Bo XIA
;
Xiao-Ping XING
;
Mei LI
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院内分泌科 卫生部内分泌重点实验室
- Keywords:
progressive diaphyseal dysplasia;
phenotype;
TGFB1 gene;
mutation
- From:
Medical Journal of Peking Union Medical College Hospital
2015;(5):327-332
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the phenotypes of a kindred with progressive diaphyseal dysplasia ( PDD) and to detect the mutation of transforming growth factor beta-1 ( TGFB1 ) gene. Methods A PDD pa-tient of a non-consanguineous family presented with early onset in childhood, who suffered from lower limb pain, fatigability and muscle weakness. Her clinical manifestations, features of skeletal X-ray examination, and bone turnover markers were evaluated. Mutation of TGFB1 was identified by direct Sanger sequencing of polymerase chain reaction amplification product. Results The proband presented with elevated bone turnover biomarkers, and nonuniform thickening and sclerosis of bone cortex of limbs in X-ray films. A heterozygous missense mutation c. 652C>T (p. Arg218Cys) in exon 4 of TGFB1 was identified in the proband, but not in either of her par-ents. Glucocorticoid was given and after 4 months of treatment, the bone pain and activity were obviously im-proved. Conclusions The typical clinical manifestations of PDD are limb pain and diaphyseal hyperostosis. The missense mutations at position 218 of TGFB1 are hotspot pathogenic mutations of PDD. Glucocorticoids can miti-gate the symptoms in PDD patients.
