{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T17:15:12Z","timestamp":1758820512176},"reference-count":44,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0380_s_999_w2aab3b7c15b1b6b1aab1c19b1Aa\">\n                  <jats:title id=\"d679415e55371_w2aab3b7c15b1b6b1aab1c19b1aAa\">Background<\/jats:title>\n                  <jats:p>Familial hypophosphatemic rickets, which is usually acknowledged as X-linked hypophosphatemic rickets (XLH), is a rare hereditary disease. XLH caused by mutations in the <jats:italic>PHEX<\/jats:italic> gene often manifests as growth retardation, skeletal deformities, osteodynia and dental dysplasia. <jats:italic>NPR2<\/jats:italic> mutations are reported to cause disproportionate short stature. Our study was designed to identify the gene mutations of three patients in one family.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0380_s_998_w2aab3b7c15b1b6b1aab1c19b2Aa\">\n                  <jats:title id=\"d679415e55385_w2aab3b7c15b1b6b1aab1c19b2aAa\">Case description<\/jats:title>\n                  <jats:p>A 40-year-old Chinese male visited the hospital for continuous osteodynia and presented with bilateral leg bowing, absent teeth and a progressive limp. The age of onset was approximately 2 years old. His 63-year-old mother and 42-year-old brother both shared identical symptoms with him. The laboratory tests were consistent with XLH, which showed decreased levels of blood phosphorus and 1,25-dihydroxyvitamin D<jats:sub>3<\/jats:sub> as well as increased urinary phosphorus excretion. Mutation analysis revealed that the proband as well as his mother and his brother all had a <jats:italic>PHEX<\/jats:italic> mutation in exon 14 (c.1543C\u2009&gt;\u2009T), and the proband also had a <jats:italic>NPR2<\/jats:italic> mutation in exon 21 (c.3058C\u2009&gt;\u2009T).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0380_s_997_w2aab3b7c15b1b6b1aab1c19b3Aa\">\n                  <jats:title id=\"d679415e55402_w2aab3b7c15b1b6b1aab1c19b3aAa\">Conclusions<\/jats:title>\n                  <jats:p>We report the familial hypophosphatemic rickets of three patients in a Chinese family caused by a <jats:italic>PHEX<\/jats:italic> gene mutation in exon 14 (c.1543C\u2009&gt;\u2009T), which had never been reported in Chinese patients. We first report an XLH case together with a <jats:italic>NPR2<\/jats:italic> mutation that had never been reported before.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0380","type":"journal-article","created":{"date-parts":[[2020,1,12]],"date-time":"2020-01-12T09:12:56Z","timestamp":1578820376000},"page":"305-311","source":"Crossref","is-referenced-by-count":4,"title":["Familial hypophosphatemic rickets caused by a <i>PHEX<\/i> gene mutation accompanied by a <b>\n                     <i>NPR2<\/i>\n                  <\/b> missense mutation"],"prefix":"10.1515","volume":"33","author":[{"given":"Yongting","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Endocrinology , The Second Affiliated Hospital of Harbin Medical University , Harbin , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Drum Tower Hospital Affiliated to Nanjing University Medical School , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , The Second Affiliated Hospital of Harbin Medical University , Harbin , P.R. China"},{"name":"Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences , Harbin , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Che","sequence":"additional","affiliation":[{"name":"Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences , Harbin , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,1,13]]},"reference":[{"key":"2023040101034634032_j_jpem-2019-0380_ref_001_w2aab3b7c15b1b6b1ab1b6b1Aa","doi-asserted-by":"crossref","unstructured":"Bitzan M, Goodyer PR. Hypophosphatemic rickets. 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