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  • Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?

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    Gabbett348677-Accepted.pdf (175.2Kb)
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    Accepted Manuscript (AM)
    Author(s)
    Gabbett, Michael T
    Jeavons, Cassandra J
    Gray, Peter H
    Griffith University Author(s)
    Gabbett, Michael T.
    Year published
    2020
    Metadata
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    Abstract
    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 ...
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    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.
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    Journal Title
    American Journal of Medical Genetics Part A
    Volume
    182
    Issue
    4
    DOI
    https://doi.org/10.1002/ajmg.a.61494
    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
    Publication URI
    http://hdl.handle.net/10072/405044
    Collection
    • Journal articles

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