{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:51:25Z","timestamp":1788457885058,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,6]],"date-time":"2017-03-06T00:00:00Z","timestamp":1488758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G.0171.05"],"award-info":[{"award-number":["G.0171.05"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (<jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic>) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers\u2013Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Biochemical collagen analysis of the patients\u2019 dermal fibroblasts showed faint overmodification of the type I collagen bands, a finding specific for structural defects in type I collagen. Bidirectional Sanger sequencing detected an in\u2010frame deletion in exon 44 of <jats:italic>COL1A1<\/jats:italic> (c.3150_3158del), resulting in the deletion of three amino acids (p.Ala1053_Gly1055del) in the collagen triple helix. This <jats:italic>COL1A1<\/jats:italic> mutation was hitherto identified in four probands with lethal OI, and never in EDS patients. As the peaks on the electropherogram corresponding to the mutant allele were decreased in intensity, we performed next generation sequencing of <jats:italic>COL1A1<\/jats:italic> to study mosaicism in skin and blood. While approximately 9% of the reads originating from fibroblast gDNA harbored the <jats:italic>COL1A1<\/jats:italic> deletion, the deletion was not detected in gDNA from blood. Most likely, the mild clinical symptoms observed in our patient can be explained by the mosaic state of the mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38135","type":"journal-article","created":{"date-parts":[[2017,3,6]],"date-time":"2017-03-06T05:06:43Z","timestamp":1488776803000},"page":"1047-1050","source":"Crossref","is-referenced-by-count":14,"title":["Tissue\u2010specific mosaicism for a lethal osteogenesis imperfecta <i>COL1A1<\/i> mutation causes mild OI\/EDS overlap syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4240-2772","authenticated-orcid":false,"given":"Sofie","family":"Symoens","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter","family":"Steyaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Demuynck","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin E. M.","family":"Diderich","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<94::AID-AJMG20>3.0.CO;2-O"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M414698200"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20456"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/383252"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212523200"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.04.030"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/nar\/25.1.181","article-title":"The human type I collagen mutation database","volume":"25","author":"Dalgleish R.","year":"1997","journal-title":"Nucleic Acids Research"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.253"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32213"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"22370","DOI":"10.1016\/S0021-9258(18)54581-6","article-title":"A 9\u2010base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta","volume":"266","author":"Hawkins J. R.","year":"1991","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01758.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038224"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20455"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-78"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02185764"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1193"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318202e0f6"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90763-8"}],"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.38135","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:36:28Z","timestamp":1696552588000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,6]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/ajmg.a.38135"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38135","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,6]]}}}