{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:03:32Z","timestamp":1791277412497,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>GALNT3<\/jats:italic>\n                    gene encodes GalNAc\u2010T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either\n                    <jats:italic>GALNT3<\/jats:italic>\n                    or\n                    <jats:italic>FGF23<\/jats:italic>\n                    result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis\u2013hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas hyperostosis\u2013hyperphosphatemia syndrome is characterized by recurrent long bone lesions with hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and\/or hyperostosis\u2013hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of\n                    <jats:italic>FGF23<\/jats:italic>\n                    and\n                    <jats:italic>GALNT3<\/jats:italic>\n                    in these patients revealed novel homozygous mutations in\n                    <jats:italic>GALNT3<\/jats:italic>\n                    . Although the presence of massive calcifications, cortical hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia. Three of the patients also had inappropriately normal 1,25\u2010dihyroxyvitamin D [1,25(OH)\n                    <jats:sub>2<\/jats:sub>\n                    D] and confirmed low circulating intact FGF23 concentrations. The four novel\n                    <jats:italic>GALNT3<\/jats:italic>\n                    mutations invariably resulted in hyperphosphatemia as a result of low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and hyperostosis\u2013hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders. \u00a9 2010 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.33337","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T14:23:20Z","timestamp":1269613400000},"page":"896-903","source":"Crossref","is-referenced-by-count":106,"title":["Clinical variability of familial tumoral calcinosis caused by novel\n                    <i>GALNT3<\/i>\n                    mutations"],"prefix":"10.1002","volume":"152A","author":[{"given":"Shoji","family":"Ichikawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aksel","family":"Seyahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia G.","family":"Garoufali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A.","family":"Imel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah R.","family":"Padgett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony M.","family":"Austin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea 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