{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:35:40Z","timestamp":1790847340095,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T00:00:00Z","timestamp":1585872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ascpt.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Translational Sci"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:p>\n                    Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a \u201cbrittle bone disease.\u201d Around 90% of patients with OI harbor loss\u2010of\u2010function or dominant negative pathogenic variants in the\n                    <jats:italic>COL1A1<\/jats:italic>\n                    and\n                    <jats:italic>COL1A2<\/jats:italic>\n                    genes, which code for collagen type I \u03b11 and \u03b12 chains. Collagen\u2010related forms of the disorder are classified as Sillence OI types I\u2013IV. OI phenotype expression ranges from mild to lethal. The current study aims to evaluate associations between interfamilial and intrafamilial phenotypic variability and genotype characteristics of patients with collagen\u2010related OI. The study was based on a systematic review of collagen\u2010related OI cases from the University of Tartu OI database (\n                    <jats:italic>n<\/jats:italic>\n                    \u00a0=\u00a0137 individuals from 81 families) and the Dalgleish database (\n                    <jats:italic>n<\/jats:italic>\n                    \u00a0=\u00a0479 individuals). Interfamilial variability analysis has shown that 17.74% of all studied OI\u2010related variants were associated with the same phenotype. The remaining 82.26% of pathogenic variants were associated with variable phenotypes. Additionally, higher interfamilial variability correlated with the\n                    <jats:italic>COL1A1<\/jats:italic>\n                    gene (\n                    <jats:italic>P<\/jats:italic>\n                    value\u00a0=\u00a00.001) and dominant\u2010negative variants (\n                    <jats:italic>P<\/jats:italic>\n                    value\u00a0=\u00a00.0007). Within intrafamilial variability, 32.81% families had increasing or decreasing OI phenotype severity across generations. Higher intrafamilial variability of phenotypes correlated with the collagen I dominant negative variants (\n                    <jats:italic>P<\/jats:italic>\n                    value\u00a0=\u00a00.0246). The current study shows that, in line with other phenotype modification factors, OI interfamilial and intrafamilial diversity potential is associated with the genotype characteristics of the OI\u2010causing pathogenic variants. The results of the current study may advance knowledge of OI phenotype modification as well as assist family planning and the evaluation of disease progression in subsequent generations.\n                  <\/jats:p>","DOI":"10.1111\/cts.12783","type":"journal-article","created":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T02:07:04Z","timestamp":1584065224000},"page":"960-971","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Inter\u2010 and Intrafamilial Phenotypic Variability in Individuals with Collagen\u2010Related Osteogenesis Imperfecta"],"prefix":"10.1111","volume":"13","author":[{"given":"Lidiia","family":"Zhytnik","sequence":"first","affiliation":[{"name":"Department of Traumatology and Orthopedics Institute of Clinical Medicine University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katre","family":"Maasalu","sequence":"additional","affiliation":[{"name":"Department of Traumatology and Orthopedics Institute of Clinical Medicine University of Tartu Tartu Estonia"},{"name":"Clinic of Traumatology and Orthopedics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiia","family":"Reimand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Institute of Clinical Medicine University of Tartu Tartu Estonia"},{"name":"Department of Clinical Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Department of Biomedicine Institute of Biomedicine and Translational Medicine University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binh Ho","family":"Duy","sequence":"additional","affiliation":[{"name":"Hue University of Medicine and Pharmacy Hue University Hue Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulev","family":"K\u00f5ks","sequence":"additional","affiliation":[{"name":"Perron Institute for Neurological and Translational Science QEII Medical Centre Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aare","family":"M\u00e4rtson","sequence":"additional","affiliation":[{"name":"Department of Traumatology and Orthopedics Institute of Clinical Medicine University of Tartu Tartu Estonia"},{"name":"Clinic of Traumatology and Orthopedics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,3]]},"reference":[{"key":"e_1_2_11_1_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.me.43.020192.001413"},{"key":"e_1_2_11_2_1","first-page":"113","article-title":"Clinical variability in osteogenesis imperfecta\u2010variable expressivity or genetic heterogeneity","volume":"15","author":"Sillence D.O.","year":"1979","journal-title":"Birth Defects Orig. 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