{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T03:41:03Z","timestamp":1777866063308,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":119,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    X\u2010linked hypophosphatemia (XLH), primarily caused by mutations of the\n                    <jats:italic>PHEX<\/jats:italic>\n                    gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth. Here, we report a 2\u2010year\u2010old boy diagnosed with XLH, presenting with short stature, genu varum, and hypophosphatemia. Sanger sequencing revealed a novel mutation of the\n                    <jats:italic>PHEX<\/jats:italic>\n                    gene, comprising a 62\u2010bp poly\u2010T and a 421\u2010bp long interspersed element\u20101 (LINE\u20101) insertion into exon 22, which appears to induce the hypophosphatemia. This study presents the first documented case of XLH associated with a partial LINE\u20101 insertion in\n                    <jats:italic>PHEX<\/jats:italic>\n                    . We suggest that LINE\u20101 transposon element insertions be considered in XLH patients lacking other known mutations.\n                  <\/jats:p>","DOI":"10.1155\/humu\/3376327","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:55:07Z","timestamp":1777535707000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["X\u2010Linked Hypophosphatemia Caused by a New Partial Insertion of LINE\u20101 in the\n                    <i>PHEX<\/i>\n                    Gene"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-3687-2294","authenticated-orcid":false,"given":"Dongmei","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4866-2663","authenticated-orcid":false,"given":"Wan","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4845-0823","authenticated-orcid":false,"given":"Lu","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8443-7231","authenticated-orcid":false,"given":"Jia","family":"Geng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2515-9686","authenticated-orcid":false,"given":"Yu","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6606-8460","authenticated-orcid":false,"given":"Jing","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ15-0275"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.101"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24296"},{"key":"e_1_2_11_4_2","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial Sequencing and Analysis of the Human Genome","volume":"409","author":"Lander E. 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