title: A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.
abstract: Tricho-rhino-phalangeal syndrome (TRPS) was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor (IGF)-1 level in this kind of patients is rare. Here, we report a patient with TRPS I (MIM 190350) presenting a novel mutation (1096insA) and abnormal changes of severe osteoporosis as well as low serum IGF-I level.
authors: Department of Endocrinology and Metabolism, Provincial Hospital Affiliated to Shandong University, Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong 250021, China.
authors: Cong
authors: C
authors: Shao
authors: Jun
authors: J
authors: Tian
authors: Dong-Hong
authors: DH
authors: Shi
authors: Chun-Xiao
authors: CX
authors: Yu
authors: Chao
authors: C
authors: Xu
authors: Lai-Cheng
authors: LC
authors: Wang
authors: Ling
authors: L
authors: Gao
authors: Jia-Jun
authors: JJ
authors: Zhao
mesh_terms: D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D010024:Osteoporosis / Q000235:genetics; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors