{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T15:41:23Z","timestamp":1780587683192,"version":"3.54.1"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T00:00:00Z","timestamp":1667347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","award":["71004"],"award-info":[{"award-number":["71004"]}],"id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007338","name":"Foundation for Barnes-Jewish Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007338","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Inactivating mutations of the gene coding for phosphate\u2010regulating endopeptidase homolog X\u2010linked (PHEX) cause X\u2010linked hypophosphatemia (XLH). A novel\n                    <jats:italic>PHEX<\/jats:italic>\n                    variant, c.*231A&gt;G; exon 13\u201315 duplication, has emerged as a common cause of XLH in North America, emphasizing the importance of delineating its clinical presentation. Here, a comprehensive description of a five\u2010generation American kindred of 22 treatment\u2010na\u00efve individuals harboring the c.*231A&gt;G; exon 13\u201315 duplication is provided. After XLH was diagnosed in the proposita, pro\u2010active family members used social media to facilitate a timely assessment of their medical history. Most had normal height and 50% were normophosphatemic. Thirteen had been given a diagnosis other than XLH, most commonly ankylosing spondylitis, and XLH was only established after genetic testing. The prevalent phenotypic characteristics of c.*231A&gt;G; exon 13\u201315 duplication were disorders of dentition (68.2%), enthesopathies (54.5%), fractures\/bone and joint conditions (50%), lower\u2010limb deformities (40.9%), hearing loss\/tinnitus (40.9%), gait abnormalities (22.7%), kidney stones\/nephrocalcinosis (18.2%), chest wall disorders (9.1%), and Chiari\/skull malformation (4.5%). More affected males than females, respectively, had gait abnormalities (42.9% versus 13.3%), lower\u2010limb deformities (71.4% versus 26.7%), and enthesopathies (85.7% versus 40%). Single phenotypes, observed exclusively in females, occurred in 22.7% and multiple phenotypes in 77.3% of the cohort. However, as many as six characteristics could develop in either affected males or females. Our findings will improve diagnostic and monitoring protocols for XLH. \u00a9 2022 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10692","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T04:54:41Z","timestamp":1666068881000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["X\u2010Linked Hypophosphatemia Caused by the Prevailing North American\n                    <scp>\n                      <i>PHEX<\/i>\n                    <\/scp>\n                    Variant\n                    <scp>c.*231A&gt;G<\/scp>\n                    ; Exon 13\u201315 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9980-9138","authenticated-orcid":false,"given":"Kathryn McCrystal","family":"Dahir","sequence":"first","affiliation":[{"name":"Program for Metabolic Bone Disorders, Division of Endocrinology Vanderbilt University Medical Center  Nashville TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margo","family":"Black","sequence":"additional","affiliation":[{"name":"Program for Metabolic Bone Disorders, Division of Endocrinology Vanderbilt University Medical Center  Nashville TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary S","family":"Gottesman","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children\u2013St. Louis  St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7284-3467","authenticated-orcid":false,"given":"Erik A","family":"Imel","sequence":"additional","affiliation":[{"name":"Departments of Medicine and Pediatrics, Division of Endocrinology Indiana University School of Medicine  Indianapolis IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-4413","authenticated-orcid":false,"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children\u2013St. Louis  St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy M","family":"Nichols","sequence":"additional","affiliation":[{"name":"College of Education and Behavioral Sciences, Arkansas State University  Jonesboro AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P","family":"Whyte","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children\u2013St. Louis  St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,11,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa151"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0152-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-130"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020881"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2020.00592"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-022-04969-5"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1014-8"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI36479"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.121"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00220"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.090832"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-021-05997-1"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24296"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.06.002"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4454"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2307"},{"key":"e_1_2_9_18_1","first-page":"170","article-title":"X\u2010linked hypophosphatemia: all eight individuals representing separate American families carrying the PHEX 30UTR mutation c.*231A>G tested positive for an exon 13\u201015 duplication","volume":"34","author":"Mumm S","year":"2019","journal-title":"J Bone Miner Res."},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3955"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.641543"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/js.2018-00338"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bonr.2020.100744"},{"issue":"6","key":"e_1_2_9_23_1","first-page":"e26033","article-title":"A rare presentation of rickets mimicking sacroiliitis: a case report and literature review","volume":"14","author":"Ali 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