Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

Jansen's metaphyseal chondrodysplasia 1 is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically associated with asymptomatic hypercalcemia and hypercalciuria due to increased bone resorption, which develops during the first months...

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Published inThe New England journal of medicine Vol. 335; no. 10; pp. 708 - 714
Main Authors Schipani, E, Langman, C.B, Parfitt, A.M, Jensen, G.S, Kikuchi, S, Kooh, S.W, Cole, W.G, Jüppner, H
Format Journal Article
LanguageEnglish
Published Boston, MA Massachusetts Medical Society 05.09.1996
Subjects
Age
Base Sequence
Biological and medical sciences
Child
Diseases of the osteoarticular system
DNA Mutational Analysis
Dwarfism - genetics
Female
Heterozygote
Humans
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Middle Aged
Molecular Sequence Data
Mutation
Osteochondrodysplasias - genetics
Patients
Pedigree
Point Mutation
Receptor, Parathyroid Hormone, Type 1
Receptors, Parathyroid Hormone - chemistry
Receptors, Parathyroid Hormone - genetics
Vitamin D
Human
Metaphyseal chondrodysplasia Jansen
Gene
Parathyroid hormone
Pathogenesis
Peptide hormone
Diseases of the osteoarticular system
Parathyroid hormone related peptide
Mutation
Osteochondrodysplasia
Genetic disease
Hormonal receptor
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ISSN0028-4793
1533-4406
DOI10.1056/NEJM199609053351004

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Summary:Jansen's metaphyseal chondrodysplasia 1 is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically associated with asymptomatic hypercalcemia and hypercalciuria due to increased bone resorption, which develops during the first months of life, despite normal or low serum concentrations of parathyroid hormone (PTH) and parathyroid hormone–related peptide (PTHrP). 2 – 10 Both peptides mediate their biologic actions through the PTH–PTHrP receptor, which belongs to a distinct family of G protein–coupled receptors, 11 has dual signaling properties, and is expressed in many fetal and adult tissues, although most abundantly in kidney, bone, and growth-plate cartilage. 12 – . . .
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ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199609053351004