{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T23:19:07Z","timestamp":1787786347637,"version":"build-2784847793"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T00:00:00Z","timestamp":1444867200000},"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":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report a sibling\u2010pair and a 4\u2010year old child from two families with an atypical presentation in Osteogenesis imperfecta (OI). In the sib\u2010pair, the older sibling initially came to medical attention due to a fracture history (Patient 1) and she was shown to have a <jats:italic>COL1A2<\/jats:italic> mutation. In addition, she also had developmental delay, facial dysmorphism, and a history of frequent infections which led to a search for an alternate diagnosis. ArrayCGH revealed a 4.3\u2009Mb duplication on chromosome 19q13.42q13.43, which was confirmed by FISH analysis. On further familial analysis, the younger sibling who had no previous fracture history was also found to have the <jats:italic>COL1A2<\/jats:italic> mutation and tested positive for the 19q13.42q13.43 duplication (Patient 2). The 19q13 duplication appears to be the cause of intellectual disability in these siblings but given that this is a chromosomal duplication, it is still possible that there is an as yet unidentified cause that may account for the combined phenotype in this family. Patient 3 was a 4\u2010year old child presenting with a femoral fracture, blue sclerae, developmental delay, and joint hypermobility. Genetic analyses confirmed a <jats:italic>COL1A2<\/jats:italic> mutation but also revealed an 8.8\u2009Mb deletion of 11q24.2q25, confirmed by G\u2010band chromosome analysis. We discuss the differing phenotypes in patients presenting with atypical OI and stress the need to consider ancillary investigations in individuals presenting with heterogeneous phenotypic symptoms, not entirely attributable to OI. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37431","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T03:55:55Z","timestamp":1444967755000},"page":"476-481","source":"Crossref","is-referenced-by-count":5,"title":["Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta"],"prefix":"10.1002","volume":"170","author":[{"given":"Meena","family":"Balasubramanian","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Cartwright","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kath","family":"Smith","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Arundel","sequence":"additional","affiliation":[{"name":"Academic Unit of Child Health University of Sheffield United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Bishop","sequence":"additional","affiliation":[{"name":"Academic Unit of Child Health University of Sheffield United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1159\/000358538","article-title":"A novel (paternally inherited) duplication 13q31.3q32.3 in a 12\u2010year\u2010old patient with facial dysmorphism and developmental delay","volume":"5","author":"Atack E","year":"2014","journal-title":"Mol Syndromol"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000066"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<201::AID-AJMG9>3.0.CO;2-Y"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.433"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2014.09.004"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.03.002"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.009"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0079"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_8_12_1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1159\/000484752","article-title":"Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain","volume":"5","author":"Nuytinck L","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31686"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35777"},{"key":"e_1_2_8_15_1","first-page":"525","article-title":"Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation","volume":"104","author":"Su PH","year":"2005","journal-title":"J Formos Med Assoc"}],"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.37431","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37431","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:05:24Z","timestamp":1696622724000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37431"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,15]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1002\/ajmg.a.37431"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37431","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,15]]}}}