{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:35:51Z","timestamp":1790847351939,"version":"4.1.0"},"reference-count":50,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"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":["075-15-2021-1058"],"award-info":[{"award-number":["075-15-2021-1058"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype\u2013genotype correlation. The objective of this study was to conduct a comprehensive molecular\u2013genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the COL1A1 and COL1A2 genes. Clinical and laboratory data were obtained from six OI patients who were observed at the Medical Genetics Center in Saint Petersburg from 2016 to 2023. Next-generation sequencing on MGISEQ G400 (MGI, China) was used for DNA analysis. The GATK bioinformatic software (version 4.5.0.0) was used for variant calling and hard filtering. Genetic variants were verified by the direct automatic sequencing of PCR products using the ABI 3500X sequencer. We identified six genetic variants, as follows pathogenic c.3505G&gt;A (p. Gly1169Ser), c.769G&gt;A (p.Gly257Arg), VUS c.4123G&gt;A (p.Ala1375Thr), and c.4114A&gt;T (p.Asn1372Tyr) in COL1A1; and likely pathogenic c.2035G&gt;A (p.Gly679Ser) and c.739-2A&gt;T in COL1A2. In addition, clinical cases are presented due to the presence of the c.4114A&gt;T variant in the COL1A2 gene. Molecular genetics is essential for determining different OI types due to the high similarity across various types of the disease and the failure of unambiguous diagnosis based on clinical manifestations alone. Considering the variable approaches to OI classification, an integrated strategy is required for optimal patient management.<\/jats:p>","DOI":"10.3390\/cimb46050252","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T03:43:46Z","timestamp":1714707826000},"page":"4106-4118","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients"],"prefix":"10.3390","volume":"46","author":[{"given":"Yulia S.","family":"Koshevaya","sequence":"first","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariia E.","family":"Turkunova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia"},{"name":"Federal State Budget Institution of Higher Education \u201cNorth-Western State Medical University named after I.I Mechnikov\u201d, Ministry of Public Health of the Russian Federation, 191015 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia O.","family":"Vechkasova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena A.","family":"Serebryakova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0120-4163","authenticated-orcid":false,"given":"Maxim Yu.","family":"Donnikov","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svyatoslav I.","family":"Papanov","sequence":"additional","affiliation":[{"name":"Surgut Disctrict Clinical Center of Maternity and Childhood Health Care, 628400 Surgut, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2464-7370","authenticated-orcid":false,"given":"Alexander N.","family":"Chernov","sequence":"additional","affiliation":[{"name":"Department of General Pathology and Pathological Physiology, Institute of Experimental Medicine, 197376 Saint Petersburg, Russia"},{"name":"Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lev N.","family":"Kolbasin","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia"},{"name":"Surgut Disctrict Clinical Center of Maternity and Childhood Health Care, 628400 Surgut, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyudmila V.","family":"Kovalenko","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7465-4504","authenticated-orcid":false,"given":"Andrey S.","family":"Glotov","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0091-2224","authenticated-orcid":false,"given":"Oleg S.","family":"Glotov","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia"},{"name":"Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Virological and Molecular Genetic Methods of Diagnostics of Children\u2019s Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency, 197022 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Deguchi, M., Tsuji, S., Katsura, D., Kasahara, K., Kimura, F., and Murakami, T. (2021). Current Overview of Osteogenesis Imperfecta. 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