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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. © 2020 Wiley Periodicals, Inc.


Michael T Gabbett, Cassandra J Jeavons, Peter H Gray. Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia? American journal of medical genetics. Part A. 2020 Apr;182(4):768-772

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PMID: 31977144

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