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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Ocular findings in Jansen metaphyseal chondrodysplasia.
JBMR Plus
September 2024
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, United States.
Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans.
View Article and Find Full Text PDFIdentification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Mol Genet Genomic Med
January 2024
Department of Pediatrics, Linyi People's Hospital, Linyi, China.
Background: Mutations in PTH1R are associated with Jansen-type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a family with a novel PTH1R mutation.
View Article and Find Full Text PDFArticle Synopsis
- Activating mutations in the PTH/PTHrP receptor lead to Jansen's metaphyseal chondrodysplasia (JMC), characterized by growth plate issues, short stature, and high calcium levels not dependent on PTH.
- Transgenic mouse models previously created for JMC did not accurately represent the disease, prompting the development of "humanized" mice that express the human mutation through the appropriate mouse promoter in all target tissues.
- These new JMC mice exhibited significant growth plate abnormalities, reduced serum PTH and P1NP levels, and may serve as a better model for studying JMC and exploring treatment possibilities.
Rare Variant of PTH1R Mutation in an Indian Family.
J Assoc Physicians India
January 2023
All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Introduction: Murk Jansen metaphyseal chondrodysplasia is an extremely rare form of skeletal dysplasia. It is caused by the mutation in PTH1R gene (1).
Materials: A 13 year old boy presented with history of progressive bowing of both legs since 5 years of age.
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