{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T14:49:54Z","timestamp":1785941394154,"version":"3.56.0"},"reference-count":107,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T00:00:00Z","timestamp":1706313600000},"content-version":"vor","delay-in-days":1152,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T00:00:00Z","timestamp":1636502400000},"content-version":"vor","delay-in-days":344,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"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), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below-normal serum phosphate. In XLH, rickets, osteomalacia, short stature, and lower limb deformity may be present with muscle pain and\/or weakness\/fatigue, bone pain, joint pain\/stiffness, hearing difficulty, enthesopathy, osteoarthritis, and dental abscesses. Invitae and Ultragenyx collaborated to provide a no-charge sponsored testing program using a 13-gene next-generation sequencing panel to confirm clinical XLH or aid diagnosis of suspected XLH\/other genetic hypophosphatemia. Individuals aged \u22656\u2009months with clinical XLH or suspected genetic hypophosphatemia were eligible. Of 831 unrelated individuals tested between February 2019 and June 2020 in this cross-sectional study, 519 (62.5%) individuals had a pathogenic or likely pathogenic variant in PHEX (PHEX-positive). Among the 312 PHEX-negative individuals, 38 received molecular diagnoses in other genes, including ALPL, CYP27B1, ENPP1, and FGF23; the remaining 274 did not have a molecular diagnosis. Among 319 patients with a provider-reported clinical diagnosis of XLH, 88.7% (n\u00a0=\u00a0283) had a reportable PHEX variant; 81.5% (n\u00a0=\u00a0260) were PHEX-positive. The most common variant among PHEX-positive individuals was an allele with both the gain of exons 13\u201315 and c.*231A&amp;gt;G (3\u2032UTR variant) (n\u00a0=\u00a066\/519). Importantly, over 80% of copy number variants would have been missed by traditional microarray analysis. A positive molecular diagnosis in 41 probands (4.9%; 29 PHEX positive, 12 non-PHEX positive) resulted in at least one family member receiving family testing. Additional clinical or family member information resulted in variant(s) of uncertain significance (VUS) reclassification to pathogenic\/likely pathogenic (P\/LP) in 48 individuals, highlighting the importance of segregation and clinical data. In one of the largest XLH genetic studies to date, 65 novel PHEX variants were identified and a high XLH diagnostic yield demonstrated broad insight into the genetic basis of XLH. \u00a9 2021 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.4454","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T09:34:03Z","timestamp":1633944843000},"page":"202-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program"],"prefix":"10.1093","volume":"37","author":[{"given":"Eric T.","family":"Rush","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Kansas Medical Center Kansas City KS USA"},{"name":"Department of Pediatrics University of Missouri \u2013 Kansas City School of Medicine Kansas City MO USA"},{"name":"Children's Mercy Kansas City Kansas City MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt","family":"Johnson","sequence":"additional","affiliation":[{"name":"Invitae San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swaroop","family":"Aradhya","sequence":"additional","affiliation":[{"name":"Invitae San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Beltran","sequence":"additional","affiliation":[{"name":"Invitae San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1173-4718","authenticated-orcid":false,"given":"Sara L.","family":"Bristow","sequence":"additional","affiliation":[{"name":"Invitae San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Eisenbeis","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc. Novato CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma E.","family":"Guerra","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Hospital General del Centro M\u00e9dico Nacional \u00abLa Raza\u00bb, Instituto Mexicano del Seguro Social (IMSS) Ciudad de M\u00e9xico Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stan","family":"Krolczyk","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc. Novato CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Miller","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc. 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