{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T17:23:48Z","timestamp":1791566628623,"version":"4.3.4"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T00:00:00Z","timestamp":1200528000000},"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":[[2008,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great\u2010toe malformations. A 617G\u2009&gt;\u2009A (R206H) mutation of the activin A type 1 receptor gene (<jats:italic>ACVR1<\/jats:italic>) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease\u2010associated mutations. We report here on a 62\u2010year\u2010old man with slowly progressive FOP and a novel mutation in <jats:italic>ACVR1<\/jats:italic>. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of <jats:italic>ACVR1<\/jats:italic> and its cDNA revealed that the patient is heterozygous for a mutation, 1067G\u2009&gt;\u2009A (G356D). Typing of SNPs located in the \u223c0.5\u2010Mb region spanning <jats:italic>ACVR1<\/jats:italic> and its neighbor genes suggested that 1067G\u2009&gt;\u2009A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32151","type":"journal-article","created":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T00:20:16Z","timestamp":1200615616000},"page":"459-463","source":"Crossref","is-referenced-by-count":82,"title":["A unique case of fibrodysplasia ossificans progressiva with an <i>ACVR1<\/i> mutation, G356D, other than the common mutation (R206H)"],"prefix":"10.1002","volume":"146A","author":[{"given":"Hirokazu","family":"Furuya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Ikezoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasumasa","family":"Ohyagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Motomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010ichi","family":"Kira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Fukumaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199302000-00008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199608223350812"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.060215"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63372-X"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1346.008"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0069-2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0128-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1783"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00663_2.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32151","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:25:08Z","timestamp":1697617508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,17]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,2,15]]}},"alternative-id":["10.1002\/ajmg.a.32151"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32151","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,17]]}}}