{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T14:31:10Z","timestamp":1680359470832},"reference-count":23,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (<jats:italic>PHEX<\/jats:italic>) have been found to be associated with XLH. Here, we report a 16-year-old female patient affected by hypophosphatemic rickets. We evaluated her serum fibroblast growth factor 23 (FGF23) levels and conducted sequence analysis of the disease-associated genes of FGF23-related hypophosphatemic rickets:<jats:italic>PHEX<\/jats:italic>,<jats:italic>FGF23<\/jats:italic>, dentin matrix protein 1, and ectonucleotide pyrophosphatase\/phosphodiesterase 1. She was diagnosed with XLH based on her clinical features and family history. Additionally, we observed elevated FGF23 levels and a novel<jats:italic>PHEX<\/jats:italic>exon 9 mutation (c.947G&gt;T; p.Gly316Val) inherited from her father. Although bioinformatics showed that the mutation was neutral, Gly316 is perfectly conserved among humans, mice, and rats, and there were no mutations in other FGF23-related rickets genes, suggesting that<jats:italic>in silico<\/jats:italic>analysis is limited in determining mutation pathogenicity. In summary, we present a female patient and her father with XLH harboring a novel<jats:italic>PHEX<\/jats:italic>mutation that appears to be causative of disease. Measurement of FGF23 for hypophosphatemic patients is therefore useful for the diagnosis of FGF23-dependent hypophosphatemia.<\/jats:p>","DOI":"10.1155\/2015\/301264","type":"journal-article","created":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T21:00:56Z","timestamp":1426453256000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["A Novel<i>PHEX<\/i>Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets"],"prefix":"10.1155","volume":"2015","author":[{"given":"Tetsuya","family":"Kawahara","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Niigata Rosai Hospital, Niigata 9428502, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Niigata National Hospital, Niigata 9458585, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Risa","family":"Omae","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga 5258577, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Tokyo Women\u2019s Medical University, Institute of Integrated Medical Sciences, Tokyo 1620054, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Inazu","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga 5258577, Japan"},{"name":"Department of Clinical Research, Saigata National Hospital, Niigata 9493193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1159\/000101487"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-351X(88)80012-0"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1097\/00041552-199807000-00004"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-130"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa020881"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021105"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m306930200"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m304544200"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/81664"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1905"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/ng1868"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.010"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2238"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1776"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021809"},{"key":"20","doi-asserted-by":"crossref","first-page":"164","DOI":"10.4103\/2230-8210.93732","volume":"16","year":"2012","journal-title":"Indian Journal of Endocrinology and Metabolism"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.340"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2105"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.02.014"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/301264.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/301264.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/301264.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T07:23:39Z","timestamp":1498202619000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2015\/301264\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":23,"alternative-id":["301264","301264"],"URL":"https:\/\/doi.org\/10.1155\/2015\/301264","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}