A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.
- Author:
Cong SHAO
1
;
Jun TIAN
;
Dong-Hong SHI
;
Chun-Xiao YU
;
Chao XU
;
Lai-Cheng WANG
;
Ling GAO
;
Jia-Jun ZHAO
Author Information
1. Department of Endocrinology and Metabolism, Provincial Hospital Affiliated to Shandong University, Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong 250021, China.
- Publication Type:Case Reports
- MeSH:
Adolescent;
DNA-Binding Proteins;
genetics;
Humans;
Langer-Giedion Syndrome;
genetics;
Male;
Mutation;
Osteoporosis;
genetics;
Transcription Factors;
genetics
- From:
Chinese Medical Journal
2011;124(10):1583-1585
- CountryChina
- Language:English
-
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.
