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
Online AccessGet full text
ISSN0028-4793
1533-4406
DOI10.1056/NEJM199609053351004

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Abstract 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 – . . .
AbstractList An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansen's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cells expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. The expression of constitutively active PTH-PTHrP receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.
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 – . . .
An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease.BACKGROUNDAn activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease.Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products.METHODSExons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products.The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors.RESULTSThe previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors.The expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.CONCLUSIONSThe expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.
Background An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansen's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Methods Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. Results The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cells expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. Conclusions The expression of constitutively active PTH-PTHrP receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.
An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. To investigate this and other activating mutations and to refine the classification of this unusual disorder, we analyzed genomic DNA from six additional patients with Jansen's disease. Exons encoding the PTH-PTHrP receptor were amplified by the polymerase chain reaction (PCR), and the products were analyzed by gel electrophoresis or direct nucleotide-sequence analysis. Nucleotide changes were confirmed by restriction-enzyme digestion of genomic DNA or the PCR products. The previously reported mutation, which changes a histidine at position 223 to arginine (H223R), was found in genomic DNA from three of the six patients but not in DNA from their healthy relatives or 45 unrelated normal subjects. A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects. In two patients with radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no receptor mutations were detected. In COS-7 cels expressing PTH-PTHrP receptors with the T410P or H223R mutation, basal cyclic AMP accumulation was four to six times higher than in cells expressing wild-type receptors. The expression of constitutively active PTH-PTHrp receptors in kidney, bone, and growth-plate chondrocytes provides a plausible genetic explanation for mineral-ion abnormalities and metaphyseal changes in patients with Jansen's disease.
Author Jensen, G.S
Kikuchi, S
Jüppner, H
Cole, W.G
Schipani, E
Parfitt, A.M
Kooh, S.W
Langman, C.B
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ContentType Journal Article
Copyright Copyright © 1996 Massachusetts Medical Society. All rights reserved.
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Issue 10
Keywords 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
Language English
License CC BY 4.0
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OpenAccessLink https://www.nejm.org/doi/pdf/10.1056/NEJM199609053351004?articleTools=true
PMID 8703170
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PublicationTitle The New England journal of medicine
PublicationTitleAlternate N Engl J Med
PublicationYear 1996
Publisher Massachusetts Medical Society
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8703176 - N Engl J Med. 1996 Sep 5;335(10):736-8
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Snippet 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...
An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with...
Background An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient...
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SubjectTerms 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
Title Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia
URI http://dx.doi.org/10.1056/NEJM199609053351004
https://www.ncbi.nlm.nih.gov/pubmed/8703170
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