Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?

View/ Open
File version
Accepted Manuscript (AM)
Author(s)
Gabbett, Michael T
Jeavons, Cassandra J
Gray, Peter H
Griffith University Author(s)
Year published
2020
Metadata
Show full item recordAbstract
Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)/parathyroid-related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence ...
View more >Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)/parathyroid-related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence that hyperparathyroidism plays an important role in blood pressure homeostasis, we propose that hypertension is a hitherto unrecognized feature of JMC.
View less >
View more >Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)/parathyroid-related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence that hyperparathyroidism plays an important role in blood pressure homeostasis, we propose that hypertension is a hitherto unrecognized feature of JMC.
View less >
Journal Title
American Journal of Medical Genetics Part A
Volume
182
Issue
4
Copyright Statement
© 2020 Wiley-Liss, Inc. This is the peer reviewed version of the following article: Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?, American Journal of Medical Genetics Part A, 2020, 182 (4), pp. 768-772, which has been published in final form at https://doi.org/10.1002/ajmg.a.61494. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)
Subject
Genetics
Clinical sciences
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
hypertension
Jansen metaphyseal chondrodysplasia