{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:37:50Z","timestamp":1762673870322},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>X-linked hypophosphatemic rickets (XLHR) caused by mutations in the <jats:italic>PHEX<\/jats:italic> gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic rickets. In previous studies, mutations in the <jats:italic>PHEX<\/jats:italic> gene were detected in 60\u201370% of patients with clinical diagnoses of XLHR. This leads to the question whether current screening methods for mutations in the <jats:italic>PHEX<\/jats:italic> gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets. We conducted a genetic analysis of patients with FGF23-related hypophosphatemic rickets to clarify their etiology and evaluate the prevalence of XLHR among this group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>We studied 27 patients with familial and sporadic congenital hypophosphatemic rickets in whom serum FGF23 was above 30\u200apg\/ml using an assay for the full-length protein. Exons and exon\u2013intron junctions of genomic DNA of causative genes for FGF23-related hypophosphatemic rickets were sequenced. <jats:italic>PHEX<\/jats:italic> mRNA from peripheral blood was analyzed in some patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Direct sequencing of genomic DNA identified 11 novel and four known mutations in the <jats:italic>PHEX<\/jats:italic> gene. Additionally, there was a large <jats:italic>PHEX<\/jats:italic> gene deletion in one case and abnormal <jats:italic>PHEX<\/jats:italic> mRNA splicing in another. In summary, 26 patients (96%) had XLHR and one patient had autosomal recessive hypophosphatemic rickets 2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>XLHR is by far the most prevalent cause of FGF23-related hypophosphatemic rickets. We propose that analysis of <jats:italic>PHEX<\/jats:italic> mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic rickets.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-12-0071","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T04:21:53Z","timestamp":1336710113000},"page":"165-172","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":29,"title":["Mutational analysis of patients with FGF23-related hypophosphatemic rickets"],"prefix":"10.1093","volume":"167","author":[{"given":"Yuka","family":"Kinoshita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tasuku","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichiro","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Hori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manabu","family":"Taguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Fukumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiro","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/167\/2\/165.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/167\/2\/165.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:27:58Z","timestamp":1676392078000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/167\/2\/165\/6659475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-12-0071","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8]]}}}