{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:18:55Z","timestamp":1787314735306,"version":"build-2736575974"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T00:00:00Z","timestamp":1578355200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":63,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Barnes-Jewish Hospital Foundation; St. Louis, MO, USA","award":["The Clark and Mildred Cox Inherited Metabolic Bone"],"award-info":[{"award-number":["The Clark and Mildred Cox Inherited Metabolic Bone"]}]},{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non-coding PHEX 3\u2032-UTR mutation c.*231A&amp;gt;G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age- and sex-matched patients with XLH but without the 3\u2032-UTR mutation. The \u201cUTR\u201d and \u201cXLH\u201d groups, both comprising 17 children (2 to 17\u2009years, 3 girls) and 13 adults (23 to 63\u2009years, 10 women), had mean ages of 23\u2009years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps\u2009&amp;lt;\u2009.0001). The UTR group was taller: mean \u00b1 SD height Z-score (HZ) \u22121.0 \u00b1\u20091.0 versus \u22122.0 \u00b1\u20091.4 (p = .0034), with significantly greater height for females (\u22120.9 \u00b1\u20090.7 versus \u22122.3 \u00b1\u20091.4; p = .0050) but not males (\u22121.2 \u00b1\u20091.1 versus \u22121.9 \u00b1\u20091.5; p = .1541), respectively. Mean \u00b1 SD \u201carm span Z-score\u201d (AZ) did not differ between the UTR \u22120.8 \u00b1\u20091.3 versus XLH \u22121.3 \u00b1\u20091.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean \u2206Z (AZ \u2013 HZ) of 0.1 \u00b1\u20090.6 versus 0.7 \u00b1\u20091.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP\/GFR) (ps \u2264 .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z-score was higher (p = .0343). Thus, the 3\u2032-UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management. \u00a9 2020 American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.3955","type":"journal-article","created":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T14:30:12Z","timestamp":1578407412000},"page":"920-931","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3\u2032-UTR Mutation c.*231A&amp;gt;G (A Retrospective Case\u2013Control Study)"],"prefix":"10.1093","volume":"35","author":[{"given":"Pamela S","family":"Smith","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics Washington University School of Medicine at St. Louis Children's Hospital St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary S","family":"Gottesman","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Cook","sequence":"additional","affiliation":[{"name":"Divsion of Endocrinology, Department of Internal Medicine Brody School of Medicine Greenville NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Divsion of Endocrinology, Department of Internal Medicine Brody School of Medicine Greenville NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Wenkert","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Wollberg","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Huskey","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children \u2013 St. Louis St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8755-8490","authenticated-orcid":false,"given":"Michael P","family":"Whyte","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA"},{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics Washington University School of Medicine at St. Louis Children's Hospital St. Louis MO USA"},{"name":"Center 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