{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T22:51:01Z","timestamp":1776207061855,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T00:00:00Z","timestamp":1643760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hypophosphatemia is mainly characterized by hypophosphatemia and a low level of 1alpha,25\u2010Dihydroxyvitamin D2 (1,25\u2010(OH)<jats:sub>2<\/jats:sub>D2) and\/or 1alpha,25\u2010Dihydroxyvitamin D3 (1,25\u2010(OH)<jats:sub>2<\/jats:sub>D3) in the blood. Previous studies have demonstrated that variants in <jats:italic>PHEX<\/jats:italic> and <jats:italic>FGF23<\/jats:italic> are primarily responsible for this disease. Although patients with variants of these two genes share almost the same symptoms, they exhibit the different hereditary pattern, X\u2010link dominant and autosome dominant, respectively. Three\u2010dimensional (3D) printing is a method which can accurately reconstruct physical objects, and its applications in orthopedics can contribute to realizing a more accurate surgical performance and a better outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An X\u2010linked hypophosphatemia (XLH) family was recruited, with four patients across three generations. We screened candidate genes and filtered a duplication variant in <jats:italic>PHEX<\/jats:italic>. Variant analysis and co\u2010segregation confirmation were then performed. Before the operation of our patient, a digital model of our patient's leg had been rebuilt upon the CT scan data, and a polylactic acid (PLA) model had been 3D\u2010printed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel duplication <jats:italic>PHEX<\/jats:italic> variant c.574dupG (p.A192GfsX20) was identified in a family with XLH. Its pathogenicity was confirmed by the co\u2010segregation assay and online bioinformatics database. The preoperative plan was made with the help of the PLA model. Then, arch osteotomy and transverse osteotomy were performed under the guidance of the previous simulation. The appearance of the surgical\u2010intervened leg was satisfactory.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study identified a novel <jats:italic>PHEX<\/jats:italic> variant and showed that 3D printing tech is a very promising approach for corrective osteotomies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24243","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T09:40:07Z","timestamp":1643794807000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic analysis combined with 3D\u2010printing assistant surgery in diagnosis and treatment for an X\u2010linked hypophosphatemia patient"],"prefix":"10.1002","volume":"36","author":[{"given":"Jie\u2010Yuan","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Orthopaedics Xiangya Hospital of Central South University Changsha China"},{"name":"School of Life Sciences Central South University Changsha China"},{"name":"Hunan Key Laboratory of Animal Models for Human Diseases Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Yang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Xiangya Hospital Central South University Changsha China"},{"name":"Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Guo","sequence":"additional","affiliation":[{"name":"School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Tang","sequence":"additional","affiliation":[{"name":"School of Life Sciences Central South University Changsha China"},{"name":"Hunan Key Laboratory of Animal Models for Human Diseases Central South University Changsha China"},{"name":"Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Xiangya Hospital of Central South University Changsha China"},{"name":"Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Xiangya Hospital of Central South University Changsha China"},{"name":"School of Life Sciences Central South University Changsha China"},{"name":"Hunan Key Laboratory of Animal Models for Human Diseases Central South University Changsha China"},{"name":"Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0533-3528","authenticated-orcid":false,"given":"Jie\u2010Yu","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Xiangya Hospital of Central South University Changsha China"},{"name":"Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00220"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0261"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M207872200"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1905"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/379445a0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.07540715"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1850"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-019-01182-3"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3928\/01477447-20151016-05"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.22.13729"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.181008"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-116"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-013-9736-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.K10E-257"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01729-0"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2019.154049"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-019-0654-6"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24243","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.24243","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T05:32:59Z","timestamp":1693114379000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.24243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,2]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/jcla.24243"],"URL":"https:\/\/doi.org\/10.1002\/jcla.24243","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,2]]},"assertion":[{"value":"2021-10-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e24243"}}