Jansen's metaphyseal chondrodysplasia - A disorder due to a PTH/PTHrP receptor gene mutation

被引：15

作者：

Juppner, H

机构：

[1] MASSACHUSETTS GEN HOSP,CHILDRENS SERV,BOSTON,MA 02114

[2] HARVARD UNIV,SCH MED,BOSTON,MA 02114

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 1996年 / 7卷 / 05期

关键词：

MESSENGER RIBONUCLEIC-ACIDS; PARATHYROID-HORMONE PTH; PEPTIDE RECEPTOR; CHONDROCYTES; CARTILAGE; RHODOPSIN; DYSPLASIA; TISSUES;

D O I：

10.1016/1043-2760(96)00063-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Jansen's metaphyseal chondrodysplasia (JMC) is a rare genetic disorder that is characterized by short-limbed dwarfism and severe, agonist-independent hypercalcemia. An activating PTH/PTHrP receptor mutation that results in constitutive cAMP accumulation was recently identified in the genomic DNA of a patient with this disorder. These findings provide a plausible explanation for the abnormal regulation of growth-plate chondrocytes and mineral ion homeostasis in JMC, and may have significant implications for understanding the broader biological role of PTHrP and its receptor.

引用

页码：157 / 162

页数：6

共 48 条

[1] PARATHYROID HORMONE-RELATED PEPTIDE-DEPLETED MICE SHOW ABNORMAL EPIPHYSEAL CARTILAGE DEVELOPMENT ALTERED ENDOCHONDRAL BONE-FORMATION [J].