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Three affected individuals carried the mutation and presented nearly identical spinal fractures but lacked other typical features of either osteogenesis imperfecta or Ehlers-Danlos syndrome. Although mutations leading to haploinsufficiency in COL1A2 are rare, mutations in COL1A1 that lead to less protein typically result in a milder phenotype. We hypothesized that other genetic factors may contribute to the severe phenotype in this family. We performed whole-exome sequencing in five family members and identified in all three affected individuals a rare nonsense variant (c.1282C\u2009&amp;gt;\u2009T\/p.Arg428*, rs150257846) in ZNF528. We studied the effect of the variant using qPCR and Western blot and its subcellular localization with immunofluorescence. Our results indicate production of a truncated ZNF528 protein that locates in the cell nucleus as per the wild-type protein. ChIP and RNA sequencing analyses on ZNF528 and ZNF528-c.1282C\u2009&amp;gt;\u2009T indicated that ZNF528 binding sites are linked to pathways and genes regulating bone morphology. Compared with the wild type, ZNF528-c.1282C\u2009&amp;gt;\u2009T showed a global shift in genomic binding profile and pathway enrichment, possibly contributing to the pathophysiology of primary osteoporosis. We identified five putative target genes for ZNF528 and showed that the expression of these genes is altered in patient cells. In conclusion, the variant leads to expression of truncated ZNF528 and a global change of its genomic occupancy, which in turn may lead to altered expression of target genes. ZNF528 is a novel candidate gene for bone disorders and may function as a transcriptional regulator in pathways affecting bone morphology and contribute to the phenotype of primary osteoporosis in this family together with the COL1A2 deletion. \u00a9 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4145","type":"journal-article","created":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T20:08:31Z","timestamp":1595966911000},"page":"2381-2392","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2336-4221","authenticated-orcid":false,"given":"Sini","family":"Skarp","sequence":"first","affiliation":[{"name":"Center for Life Course Health Research Faculty of Medicine, University of Oulu Oulu Finland"},{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"},{"name":"Infrastructure for Population Studies Northern Finland Birth Cohorts, Faculty of Medicine, University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Han","family":"Xia","sequence":"additional","affiliation":[{"name":"Biocenter Oulu University of Oulu Oulu Finland"},{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Biocenter Oulu University of Oulu Oulu Finland"},{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marika","family":"L\u00f6ija","sequence":"additional","affiliation":[{"name":"Center for Life Course Health Research Faculty of Medicine, University of Oulu Oulu Finland"},{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1408-9272","authenticated-orcid":false,"given":"Alice","family":"Costantini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet\/Stockholm Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lloyd W","family":"Ruddock","sequence":"additional","affiliation":[{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism Faculty of Medicine, University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Genetics Research Program Helsinki Finland"},{"name":"Children's Hospital and Pediatric Research Center University of Helsinki and Helsinki University Hospital Helsinki Finland"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet\/Stockholm Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gong-Hong","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology School of Basic Medical Sciences and Zhongshan Hospital, Fudan University Shanghai China"},{"name":"Biocenter Oulu University of Oulu Oulu Finland"},{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-6423","authenticated-orcid":false,"given":"Minna","family":"M\u00e4nnikk\u00f6","sequence":"additional","affiliation":[{"name":"Center for Life Course Health Research Faculty of Medicine, University of Oulu Oulu Finland"},{"name":"Infrastructure for Population Studies Northern Finland Birth Cohorts, Faculty of Medicine, University of Oulu Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,7,28]]},"reference":[{"key":"2024031419000801700_jbmr4145-bib-0001","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med 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