{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:15:37Z","timestamp":1791900937269,"version":"4.3.4"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Expansile skeletal hyperphosphatasia (ESH) is a singular disorder characterized in the year 2000 in a mother and daughter with early-onset deafness, premature loss of teeth, progressive hyperostotic widening of long bones causing painful phalanges in the hands, accelerated bone remodeling, and episodic hypercalcemia likely inherited as a highly penetrant, autosomal dominant trait. Absence of large osteolytic lesions with cortical thinning in major long bones, together with bouts of hypercalcemia, indicated that ESH is not a variant of familial expansile osteolysis (FEO). Here, we investigated the molecular basis of ESH after three families with FEO were reported to have an identical 18-base pair tandem duplication (84dup18) in the signal peptide sequence of the TNFRSF11A gene that encodes receptor activator of nuclear factor-\u03baB (RANK). We find that ESH is caused by a remarkably similar 15-base pair tandem duplication (84dup15) in TNFRSF11A. Hence, ESH and FEO are allelic diseases and ESH, like FEO, probably reflects increased activity in the skeleton of the RANK target, nuclear factor-\u03baB (NF-\u03baB).<\/jats:p>","DOI":"10.1359\/jbmr.2002.17.1.26","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T04:06:42Z","timestamp":1146110802000},"page":"26-29","source":"Crossref","is-referenced-by-count":158,"title":["Expansile Skeletal Hyperphosphatasia Is Caused by a 15-Base Pair Tandem Duplication in<i>TNFRSF11A<\/i>Encoding RANK and Is Allelic to Familial Expansile Osteolysis"],"prefix":"10.1093","volume":"17","author":[{"given":"Michael P.","family":"Whyte","sequence":"first","affiliation":[{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri, USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne E.","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Queen's University of Belfast, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,10,24]]},"reference":[{"key":"2024013019034568100_bib1","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1359\/jbmr.2000.15.12.2330","article-title":"Expansile skeletal hyperphosphatasia: A new familial metabolic bone disease","volume":"15","author":"Whyte","year":"2000","journal-title":"J Bone Miner Res"},{"key":"2024013019034568100_bib2","doi-asserted-by":"crossref","DOI":"10.56021\/9780801857423","volume-title":"Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders","author":"McKusick","year":"1998","edition":"12th ed."},{"key":"2024013019034568100_bib2","volume-title":"(OMIM); 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