{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T15:36:44Z","timestamp":1782142604654,"version":"3.54.5"},"reference-count":3,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T00:00:00Z","timestamp":1532995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["DPG6180001"],"award-info":[{"award-number":["DPG6180001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010897","name":"Newton Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Cole\u2010Carpenter syndrome (CCS), commonly classified as a rare type of osteogenesis imperfecta, is a disorder with severe bone fragility, craniosynostosis, and distinct facial features. Recently, the heterozygous missense mutation, c.1178A&gt;G, p.Tyr393Cys, in exon 9 of <jats:italic>P4HB<\/jats:italic> which encodes protein disulfide isomerase, has been found in three Caucasian patients with CCS. Ethnic background is known to affect clinical manifestations, especially facial features of dysmorphic syndromes. Here, we describe the first Asian CCS patient possessing the recurrent mutation in <jats:italic>P4HB<\/jats:italic>. Although she had several common features of CCS including bulging forehead, ocular proptosis, midface hypoplasia, long bone deformity, popcorn epiphyses, vertebral fractures, and scoliosis, she did not have hydrocephalus, wormian bones, and dentinogenesis imperfecta, commonly seen in Caucasian patients. Interestingly, she is the only one without macrocephaly. Radiologically, metadiaphyseal fractures of the long bones with metaphyseal sclerosis were found, substantiating that they provide a definitive radiological feature of CCS. In addition, we showed for the first time a three\u2010dimensional facial scan of a patient with CCS. She had been given intravenous bisphosphonate since the age of 9 months and had responded well. Our study presents the clinical features of the first Asian patient, supports metaphyseal scleroses and fractures as radiological clues, strengthens early bisphosphonate administration, and confirms the etiologic role of the c.1178A&gt;G variant in <jats:italic>P4HB<\/jats:italic> across populations.<\/jats:p>","DOI":"10.1002\/ajmg.a.40358","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T11:37:34Z","timestamp":1533123454000},"page":"1706-1710","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cole\u2010Carpenter syndrome in a patient from Thailand"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-9801","authenticated-orcid":false,"given":"Thantrira","family":"Porntaveetus","sequence":"first","affiliation":[{"name":"Genomics and Precision Dentistry Research Unit Department of Physiology, Faculty of Dentistry, Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanakorn","family":"Theerapanon","sequence":"additional","affiliation":[{"name":"Excellence Center in Regenerative Dentistry, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chalurmpon","family":"Srichomthong","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1856-0589","authenticated-orcid":false,"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,31]]},"reference":[{"issue":"3","key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1136\/jmedgenet-2017-104899","article-title":"P4HB recurrent missense mutation causing Cole\u2010Carpenter syndrome","volume":"55","author":"Balasubramanian M.","year":"2018","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80292-5"},{"issue":"3","key":"e_1_2_5_4_1","first-page":"425","article-title":"Cole\u2010Carpenter syndrome is caused by a heterozygous missense mutation in P4HB","volume":"96","author":"Rauch F.","year":"2015","journal-title":"American Journal of Medical Genetics Part A"}],"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.40358","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T02:36:55Z","timestamp":1695004615000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,31]]},"references-count":3,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1002\/ajmg.a.40358"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40358","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,31]]},"assertion":[{"value":"2018-05-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}