一个新的 TPRS1 基因突变导致一名中国严重骨质疏松症患者的毛发-鼻-指（趾）综合征。

A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.

机构信息

Department of Endocrinology and Metabolism, Provincial Hospital Affiliated to Shandong University, Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong 250021, China.

出版信息

Chin Med J (Engl). 2011 May;124(10):1583-5.

PMID:21740822

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.

摘要

毛发鼻指（趾）综合征（TRPS）于 1966 年首次报道。尽管 2000 年认为 TRPS1 基因突变是导致该综合征的原因，但对这类患者的骨代谢和血清胰岛素样生长因子（IGF）-1 水平变化的研究较为少见。在这里，我们报告了一例 TRPS I（MIM 190350）患者，其存在新的突变（1096insA）以及严重骨质疏松症和低血清 IGF-I 水平的异常变化。