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Variants in PTH1R have been linked to several conditions, including Jansen metaphyseal chondrodysplasia, Blomstrand chondrodysplasia, primary failure of tooth eruption, and Eiken syndrome. Here, we report a novel skeletal phenotype identified in two unrelated families associated with PTH1R variants. The clinical features include brachydactyly type E, mild short stature, and dental anomalies. A novel heterozygous PTH1R substitution (p.E469K) was identified in affected members of Family 1, while the affected individual from Family 2 had a previously described heterozygous de novo substitution (p.E465K); these two mutated sites lie within helix 8 (H8) of the PTH1R. Cell-based assays revealed reduced cell surface expression, as well as impaired basal and PTH- or PTHrP-induced cAMP signaling responses for both mutants, as compared to WT-PTH1R. Introduction of the p.E469K substitution into humanized PTH1R mice resulted in mildly increased mineralization of bones in the paws as well as shortening of long bones. Our findings demonstrate a new skeletal phenotype associated with PTH1R variants and suggest that H8 of the receptor contributes to PTH1R expression and\/or signaling during bone development.<\/jats:p>","DOI":"10.1093\/jbmr\/zjaf134","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T12:20:28Z","timestamp":1759234828000},"page":"521-536","source":"Crossref","is-referenced-by-count":3,"title":["A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R"],"prefix":"10.1093","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5062-5963","authenticated-orcid":false,"given":"Gavin","family":"Monahan","sequence":"first","affiliation":[{"name":"Harry Perkins Institute, Centre for Medical Research, University of Western Australia , Nedlands, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"H\u00f6ppner","sequence":"additional","affiliation":[{"name":"Endocrine 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