{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T02:54:27Z","timestamp":1777776867634,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,9]],"date-time":"2015-06-09T00:00:00Z","timestamp":1433808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/IN\/DENMARK\/02\/PDN\/2011"],"award-info":[{"award-number":["BT\/IN\/DENMARK\/02\/PDN\/2011"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fibrodysplasia Ossificans Progressiva (FOP) is a rare debilitating disorder characterized by congenital deformity of the great toes from infancy and postnatal heterotopic ossification. Activating mutations in the activin A receptor type 1 (<jats:italic>ACVR1<\/jats:italic>) gene are responsible for the disease. The most common allelic variant leading to FOP is c.617 G&gt;A; p.R206H, however, other alleles have been reported with atypical phenotypes. We report 14 cases presenting to a referral institution in South India over a 3\u2010year period. The patients were clinically diagnosed based on foot abnormality or abnormal ectopic ossification and were screened for <jats:italic>ACVR1<\/jats:italic>. The genetic analysis of <jats:italic>ACVR1<\/jats:italic> identified the recurrent allelic variant in 12 of 14 patients. One of the remaining patients had a previously reported allele c.1067G&gt;A; p.G356D in the 9th exon and the second allele c.983G&gt;A; p.G328E in the 8th exon of <jats:italic>ACVR1<\/jats:italic>. The most common recurrent allele c.617 G&gt;A; p.R206H is also the most common in Indian patients with FOP.<\/jats:p>","DOI":"10.1111\/ahg.12112","type":"journal-article","created":{"date-parts":[[2015,6,10]],"date-time":"2015-06-10T08:25:48Z","timestamp":1433924748000},"page":"245-252","source":"Crossref","is-referenced-by-count":9,"title":["Classical and Atypical Fibrodysplasia Ossificans Progressiva in India"],"prefix":"10.1111","volume":"79","author":[{"given":"Vrisha","family":"Madhuri","sequence":"first","affiliation":[{"name":"Paediatric Orthopaedics Unit, Department of Orthopaedics Christian Medical College  Vellore Tamil Nadu 632004 India"},{"name":"Centre for Stem Cell Research Christian Medical College  Vellore Tamil Nadu 632004 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Santhanam","sequence":"additional","affiliation":[{"name":"Centre for Stem Cell Research Christian Medical College  Vellore Tamil Nadu 632004 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Legasri K","family":"Sugumar","sequence":"additional","affiliation":[{"name":"Centre for Stem Cell Research Christian Medical College  Vellore Tamil Nadu 632004 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthikeyan","family":"Rajagopal","sequence":"additional","affiliation":[{"name":"Centre for Stem Cell Research Christian Medical College  Vellore Tamil Nadu 632004 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay K","family":"Chilbule","sequence":"additional","affiliation":[{"name":"Paediatric Orthopaedics Unit, Department of Orthopaedics Christian Medical College  Vellore Tamil Nadu 632004 India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,9]]},"reference":[{"key":"e_1_2_6_3_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/834605"},{"key":"e_1_2_6_3_3_1","first-page":"311","article-title":"Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements","volume":"17","author":"Bocciardi R.","year":"2009","journal-title":"Eur J Med Genet"},{"key":"e_1_2_6_3_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01256.x"},{"key":"e_1_2_6_3_5_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.64B1.7068725"},{"key":"e_1_2_6_3_6_1","doi-asserted-by":"crossref","first-page":"631","DOI":"10.7196\/SAMJ.5519","article-title":"Confirmation of the recurrent ACVR1 617G> A mutation in South Africans with fibrodysplasia ossificans progressiva","volume":"102","author":"Dandara C.","year":"2012","journal-title":"S Afr Med J"},{"key":"e_1_2_6_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.005"},{"key":"e_1_2_6_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32151"},{"key":"e_1_2_6_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2010.10.164"},{"key":"e_1_2_6_3_10_1","first-page":"113","article-title":"Fibrodysplasia ossificans progressiva: report of a case and review of articles","volume":"8","author":"Hashemi J.","year":"2011","journal-title":"Iran J Radiol"},{"key":"e_1_2_6_3_11_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/260371"},{"key":"e_1_2_6_3_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.010280"},{"key":"e_1_2_6_3_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.11.007"},{"key":"e_1_2_6_3_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1980"},{"key":"e_1_2_6_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20868"},{"key":"e_1_2_6_3_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-0469"},{"key":"e_1_2_6_3_17_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2009.24.3.433"},{"key":"e_1_2_6_3_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0069-2"},{"key":"e_1_2_6_3_19_1","first-page":"53","article-title":"Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty\u2010seven French fibrodysplasia ossificans progressiva (FOP) patients","volume":"20","author":"Lucotte G.","year":"2008","journal-title":"Genet Couns"},{"key":"e_1_2_6_3_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2012.07.002"},{"key":"e_1_2_6_3_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36219"},{"key":"e_1_2_6_3_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0128-3"},{"key":"e_1_2_6_3_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005005"},{"key":"e_1_2_6_3_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-80"},{"key":"e_1_2_6_3_25_1","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1007\/s10067-012-1968-6","article-title":"Evaluation of 20 years experience of fibrodysplasia ossificans progressiva in Iran: lessons for early diagnosis and prevention","volume":"31","author":"Raees\u2010Karami S. R.","year":"2012","journal-title":"Clin Rheumatol"},{"key":"e_1_2_6_3_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-009-1283-z"},{"key":"e_1_2_6_3_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1783"},{"key":"e_1_2_6_3_28_1","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s12098-013-1117-5","article-title":"Fibrodysplasia ossificans progressiva: Three Indian patients with mutation in the ACVR1 gene","volume":"81","author":"Shukla A.","year":"2013","journal-title":"Indian J Pediatr"},{"key":"e_1_2_6_3_29_1","first-page":"20","article-title":"Fibrodysplasia ossificans progressiva","volume":"24","author":"Stefanova I.","year":"2012","journal-title":"Med Genet."},{"key":"e_1_2_6_3_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/ael251"},{"key":"e_1_2_6_3_31_1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1080\/16501970510027628","article-title":"Heterotopic ossification: a review","volume":"37","author":"Vanden B. L.","year":"2005","journal-title":"J Rehabil Med"},{"key":"e_1_2_6_3_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002239900693"},{"key":"e_1_2_6_3_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_6_3_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1473"},{"key":"e_1_2_6_3_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2013.09.002"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T10:54:04Z","timestamp":1696503244000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,9]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/ahg.12112"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12112","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,9]]}}}