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One approach to discovering novel anabolic drug targets is to identify genetic causes of extreme high bone mass (HBM). We investigated a pedigree with unexplained HBM within the UK HBM study, a national cohort of probands with HBM and their relatives. Whole exome sequencing (WES) in a family with HBM identified a rare heterozygous missense variant (NM_004482.4:c.1657C\u2009&amp;gt;\u2009T, p.Arg553Trp) in GALNT3, segregating appropriately. Interrogation of data from the UK HBM study and the Anglo-Australasian Osteoporosis Genetics Consortium (AOGC) revealed an unrelated individual with HBM with another rare heterozygous variant (NM_004482.4:c.831\u2009T\u2009&amp;gt;\u2009A, p.Asp277Glu) within the same gene. In silico protein modeling predicted that p.Arg553Trp would disrupt salt-bridge interactions, causing instability of GALNT3, and that p.Asp277Glu would disrupt manganese binding and consequently GALNT3 catalytic function. Bi-allelic loss-of-function GALNT3 mutations alter FGF23 metabolism, resulting in hyperphosphatemia and causing familial tumoral calcinosis (FTC). However, bone mineral density (BMD) in FTC cases, when reported, has been either normal or low. Common variants in the GALNT3 locus show genome-wide significant associations with lumbar, femoral neck, and total body BMD. However, no significant associations with BMD are observed at loci coding for FGF23, its receptor FGFR1, or coreceptor klotho. Mendelian randomization analysis, using expression quantitative trait loci (eQTL) data from primary human osteoblasts and genome-wide association studies data from UK Biobank, suggested increased expression of GALNT3 reduces total body, lumbar spine, and femoral neck BMD but has no effect on phosphate concentrations. In conclusion, rare heterozygous loss-of-function variants in GALNT3 may cause HBM without altering phosphate concentration. These findings suggest that GALNT3 may affect BMD through pathways other than FGF23 regulation, the identification of which may yield novel anabolic drug targets for osteoporosis. \u00a9 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4795","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T02:06:12Z","timestamp":1677204372000},"page":"678-691","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7052-5708","authenticated-orcid":false,"given":"Neelam","family":"Hassan","sequence":"first","affiliation":[{"name":"Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6414-0529","authenticated-orcid":false,"given":"Celia L.","family":"Gregson","sequence":"additional","affiliation":[{"name":"MRC Integrated Epidemiology Unit, Population Health Sciences, Bristol Medical School University of Bristol Bristol UK"},{"name":"Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5717-8390","authenticated-orcid":false,"given":"Haotian","family":"Tang","sequence":"additional","affiliation":[{"name":"MRC Integrated Epidemiology Unit, Population Health Sciences, Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8060-3359","authenticated-orcid":false,"given":"Marc","family":"van der Kamp","sequence":"additional","affiliation":[{"name":"School of Biochemistry University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Leo","sequence":"additional","affiliation":[{"name":"Faculty of Health, Translational Genomics Group, Institute of Health and Biomedical Innovation Queensland University of Technology Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0059-5732","authenticated-orcid":false,"given":"Aideen M.","family":"McInerney-Leo","sequence":"additional","affiliation":[{"name":"The Faculty of Medicine, Frazer Institute The University of Queensland Woolloongabba Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6623-6839","authenticated-orcid":false,"given":"Jie","family":"Zheng","sequence":"additional","affiliation":[{"name":"MRC Integrated Epidemiology Unit, Population Health Sciences, Bristol Medical School University of Bristol Bristol UK"},{"name":"Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"},{"name":"Shanghai National Clinical Research Center for metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China Shanghai Jiao Tong University School of Medicine Shanghai China"},{"name":"Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-0592","authenticated-orcid":false,"given":"Maria Luisa","family":"Brandi","sequence":"additional","affiliation":[{"name":"FIRMO Foundation Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6305-6333","authenticated-orcid":false,"given":"Jonathan C. Y.","family":"Tang","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry, Departments of Laboratory Medicine Norfolk and Norwich University Hospital NHS Foundation Trust Norwich UK"},{"name":"Norwich Medical School University of East Anglia Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0556-3358","authenticated-orcid":false,"given":"William","family":"Fraser","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Clinical Biochemistry Norfolk and Norwich University Hospital NHS Foundation Trust Norwich UK"},{"name":"Norwich Medical School University of East Anglia Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Stone","sequence":"additional","affiliation":[{"name":"University Hospital Llandough Cardiff & Vale University Health Board Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-7896","authenticated-orcid":false,"given":"Elin","family":"Grundberg","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center Children's Mercy Kansas City Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Anglo-Australasian Genetics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[{"name":"Genomics England London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8143-4403","authenticated-orcid":false,"given":"Emma L.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Department of Twin Research and Genetic Epidemiology, School of Life Course & Population Sciences, Faculty of Life Sciences and Medicine King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7475-3932","authenticated-orcid":false,"given":"Jonathan H.","family":"Tobias","sequence":"additional","affiliation":[{"name":"MRC Integrated Epidemiology Unit, Population Health Sciences, Bristol Medical School University of Bristol Bristol UK"},{"name":"Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"2024012714105724300_jbmr4795-bib-0001","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1359\/jbmr.061113","article-title":"Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025","volume":"22","author":"Burge","year":"2007","journal-title":"J Bone Miner Res"},{"key":"2024012714105724300_jbmr4795-bib-0002","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1007\/BF01623782","article-title":"Guidelines for diagnosis and management of osteoporosis. 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