{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T19:54:51Z","timestamp":1775505291342,"version":"3.50.1"},"reference-count":17,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["075-15-2021-1061"],"award-info":[{"award-number":["075-15-2021-1061"]}]},{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["RF 193021X0029"],"award-info":[{"award-number":["RF 193021X0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. We described here a case of a one-year-old Tuvan patient with multiple fractures. The disease manifestation occurred first at 12 weeks of age as a shoulder joint bruise, and during the year, the patient sustained 27 fractures. Genetic testing revealed a novel homozygous mutation, c.259_260insCGGCC (p.T87fs), in the SERPINF1 gene. This insertion leads to an open-reading frameshift, and the mutation is not represented in the databases. Mutations in SERPINF1 lead to type VI OI, the clinical picture of which is similar to the disease phenotype manifestation of the patient. Thus, the patient\u2019s diagnosis was established by finding a novel pathogenic variant in the SERPINF1 gene.<\/jats:p>","DOI":"10.3390\/ijms24076672","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T02:30:15Z","timestamp":1680575415000},"page":"6672","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6848-7749","authenticated-orcid":false,"given":"Irina Zh.","family":"Zhalsanova","sequence":"first","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Evgenievna","family":"Postrigan","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nail Raushanovich","family":"Valiakhmetov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8855-577X","authenticated-orcid":false,"given":"Nikita Aleksandrovich","family":"Kolesnikov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daria Ivanovna","family":"Zhigalina","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksei Andreevich","family":"Zarubin","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria Viktorovna","family":"Petrova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larisa Ivanovna","family":"Minaycheva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulnara Narimanovna","family":"Seitova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolay Alekseevich","family":"Skryabin","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vadim Anatolevich","family":"Stepanov","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"ref_2","first-page":"1650","article-title":"Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease*","volume":"12","author":"Glorieux","year":"1997","journal-title":"J. Bone Miner. Res."},{"key":"ref_3","unstructured":"Marini, J.C., and Do, A.N.D. (2020). Osteogenesis Imperfecta, MDText.com, Inc."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.fsigen.2018.10.006","article-title":"Improved pairwise kinship analysis using massively parallel sequencing","volume":"38","author":"Li","year":"2019","journal-title":"Forensic Sci. Int. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1359\/jbmr.2002.17.1.30","article-title":"Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect","volume":"17","author":"Glorieux","year":"2002","journal-title":"J. Bone Miner. Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ajhg.2011.01.015","article-title":"Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta","volume":"88","author":"Becker","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2798","DOI":"10.1002\/jbmr.487","article-title":"Mutations in SERPINF1 cause osteogenesis imperfecta type VI","volume":"26","author":"Homan","year":"2011","journal-title":"J. Bone Miner. Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1002\/ajmg.a.35938","article-title":"Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations","volume":"161","author":"Valencia","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.3346\/jkms.2013.28.7.1107","article-title":"Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1","volume":"28","author":"Cho","year":"2013","journal-title":"J. Korean Med. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1002\/jbmr.1480","article-title":"Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type i collagen","volume":"27","author":"Venturi","year":"2012","journal-title":"J. Bone Miner. Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/stem.1505","article-title":"Pigment Epithelium-Derived Factor Enhances Differentiation and Mineral Deposition of Human Mesenchymal Stem Cells","volume":"31","author":"Li","year":"2013","journal-title":"Stem Cells"},{"key":"ref_12","first-page":"183","article-title":"First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI","volume":"12","author":"Semler","year":"2012","journal-title":"J. Musculoskelet. Neuronal Interact."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"36","DOI":"10.18699\/VJGB-23-06","article-title":"Structure and origin of Tuvan gene poolaccording to autosome SNP and Y-chromosome haplogroups","volume":"27","author":"Stepanov","year":"2023","journal-title":"Vavilov J. Genet. Breed."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Zytsar, M.V., Bady-Khoo, M.S., Danilchenko, V.Y., Maslova, E.A., Barashkov, N.A., Morozov, I.V., Bondar, A.A., and Posukh, O.L. (2020). High Rates of Three Common GJB2 Mutations c.516G&gt;C, c.-23+1G&gt;A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. Genes, 11.","DOI":"10.3390\/genes11070833"},{"key":"ref_15","unstructured":"Klimov, L.Y., Vdovina, T.M., Pechenkina, V.A., Zhelezniakova, T.V., Zakharova, I.N., Dolbnya, S.V., Kuryaninova, V.A., Kastarnov, A.V., Shmalko, D.A., and Tsutsaev, R.O. (2021). Meditsinskiy Sovet, Remedium Group Ltd."},{"key":"ref_16","unstructured":"Puzyrev, V.P., Erdynieva, L.S., Kucher, A.N., and Nazarenko, L.P. (1999). Genetiko-Epidemiologicheskoe Issledovanie Naseleniya Tuvy (Genetic Epidemiological Study of the Tuva Population), STT."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.fsigen.2014.07.004","article-title":"Familias 3\u2014Extensions and new functionality","volume":"13","author":"Kling","year":"2014","journal-title":"Forensic Sci. Int. Genet."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/7\/6672\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:09:00Z","timestamp":1760123340000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/7\/6672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,3]]},"references-count":17,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["ijms24076672"],"URL":"https:\/\/doi.org\/10.3390\/ijms24076672","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,3]]}}}