{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:01Z","timestamp":1747146181598,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare connective tissue disorder with clinical and genetic heterogeneity. The cardinal features of OI are bone fragility and low bone mineral density (BMD). Pathogenic variants in <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes, which encode the pro<jats:italic>\u03b1<\/jats:italic>\u20101(I) and pro<jats:italic>\u03b1<\/jats:italic>\u20102(I) chains of Type 1 collagen, are the most common causes of OI. Mutations disrupting the carboxy\u2010terminal propeptide cleavage site of the pro<jats:italic>\u03b1<\/jats:italic>\u20101(I) and pro<jats:italic>\u03b1<\/jats:italic>\u20102(I) chains have recently been reported as rare causes of OI with paradoxically normal to high BMD. This report describes a father and daughter with OI who are heterozygous for a novel likely pathogenic variant at the carboxy\u2010terminal propeptide cleavage site of <jats:italic>COL1A1<\/jats:italic> (NM_000088.4): c.3656A&gt;G; (p.Asp1219Gly). We describe their intrafamilial phenotypic variability and overlapping features with other <jats:italic>COL1A1<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62712","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T02:49:35Z","timestamp":1646362175000},"page":"1885-1889","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel pathogenic variant at the C\u2010terminal propeptide cleavage site of <i>COL1A1<\/i>, causing osteogenesis imperfecta with intrafamilial variability"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4369-7082","authenticated-orcid":false,"given":"Steven H.","family":"Lang","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8891-2324","authenticated-orcid":false,"given":"Ryan A.","family":"Gallo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5484-5186","authenticated-orcid":false,"given":"Irman","family":"Forghani","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61523"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31550"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3424"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310000505"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.47.070178.001021"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21475"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0373-x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-78"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13683"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117161"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9430"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"volume-title":"GeneReviews","year":"2005","author":"Steiner R. 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