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Biosci. (Schol Ed)"],"abstract":"<jats:p>Background: Reverse cascade genetic screening, following initial lipid testing, is an effective strategy for the early diagnosis of familial hypercholesterolemia (FH) and related hereditary dyslipidemias. In this study, we present the results of a pilot project in Russia. Methods: This was a hybrid retrospective\u2013prospective cross-sectional study. Analysis of 1897 lipid screenings of children referred to the main pediatric centers in St. Petersburg, Russia, demonstrated that 60 (3.2%) met the Simon Broome criteria for FH, defined as total cholesterol (TC) \u22656.5 mmol\/L or low-density lipoprotein cholesterol (LDL-C) \u22654 mmol\/L. All families were invited to undergo genetic testing, regardless of their history, with 35 (58%) families participating in the second stage of the study. Targeted sequencing was performed for children, and Sanger sequencing was performed for variant validation in children and their family members. Results: Sixteen children were shown to have causal variants in dyslipidemia-associated genes, including fourteen (40% of 35 tested children) with hereditary dyslipidemias: twelve FH cases (linked to LDLR and APOB genetic variants), one dysbetalipoproteinemia case (APOE), and one sitosterolemia case (ABCG8). Two children were heterozygous for sitosterolemia variants (one case with ABCG5, one case with ABCG8). Family history of FH or atherosclerotic cardiovascular disease (ASCVD) was reported in only 50% of cases, regardless of whether a causal variant was present. TC and LDL-C were higher in the causal variant-positive subgroup. Receiver operating characteristic curve analysis revealed that LDL-C &gt;4.8 mmol\/L acted as a diagnostic indicator of disease causing variant with 84% accuracy, 93% sensitivity, and 73% specificity. Conclusions: Reverse cascade genetic screening following selective lipid testing in children is an effective strategy to reveal new FH and other hereditary dyslipidemia cases, helping to mitigate future ASCVD risks and early mortality.<\/jats:p>","DOI":"10.31083\/fbs47474","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:26:53Z","timestamp":1790699213000},"source":"Crossref","is-referenced-by-count":0,"title":["Reverse Cascade Genetic Screening for Revealing New Cases of Familial Hypercholesterolemia in Russia: Pilot Project"],"prefix":"10.31083","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3160-2314","authenticated-orcid":true,"given":"Valentina V.","family":"Miroshnikova","sequence":"first","affiliation":[{"name":"Department of Molecular and Radiation Biophysics, Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre \u00abKurchatov Institute\u00bb, 188300 Gatchina, Russia"},{"name":"Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2919-1878","authenticated-orcid":true,"given":"Artem D.","family":"Izyumchenko","sequence":"additional","affiliation":[{"name":"Department of Molecular and Radiation Biophysics, Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre \u00abKurchatov Institute\u00bb, 188300 Gatchina, Russia"},{"name":"Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0581-7285","authenticated-orcid":true,"given":"Nataliia N.","family":"Smirnova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2054-3419","authenticated-orcid":true,"given":"Natalia B.","family":"Kuprienko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3046-372X","authenticated-orcid":true,"given":"Soreiia A.","family":"Urazgildeeva","sequence":"additional","affiliation":[{"name":"Center for Atherosclerosis and Lipid Metabolism Disorders of L. G. Sokolov Northwest District Scientific and Clinical Center, 194291 Saint Petersburg, Russia"},{"name":"Saint-Petersburg Medical and Social Institute, 195271 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1186-1303","authenticated-orcid":true,"given":"Maria N.","family":"Grunina","sequence":"additional","affiliation":[{"name":"Department of Molecular and Radiation Biophysics, Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre \u00abKurchatov Institute\u00bb, 188300 Gatchina, Russia"},{"name":"Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5166-2448","authenticated-orcid":true,"given":"Svetlana V.","family":"Linkova","sequence":"additional","affiliation":[{"name":"Children Municipal Multi-Specialty Clinical Center of High Medical Technology Named after K.A. Rauhfus, 191036 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6972-7924","authenticated-orcid":true,"given":"Kseniia V.","family":"Dracheva","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7594-0201","authenticated-orcid":true,"given":"Kseniia O.","family":"Tanayants","sequence":"additional","affiliation":[{"name":"Department of Molecular and Radiation Biophysics, Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre \u00abKurchatov Institute\u00bb, 188300 Gatchina, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0404-2538","authenticated-orcid":true,"given":"Alina A.","family":"Petrik","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Budgetary Healthcare Institution \u201cConsultative and Diagnostic Center for Children\u201d, 192289 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0091-2224","authenticated-orcid":true,"given":"Oleg S.","family":"Glotov","sequence":"additional","affiliation":[{"name":"Scientific Research Department of Medical Virology, Molecular Genetics and Biobanking, Pediatric Research and Clinical Center for Infectious Diseases under the Federal Medical Biological Agency, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7006-0215","authenticated-orcid":true,"given":"Kristina V.","family":"Legostaeva","sequence":"additional","affiliation":[{"name":"Department of Propaedeutics of Internal Diseases, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4544-2967","authenticated-orcid":true,"given":"Alexandr N.","family":"Kulikov","sequence":"additional","affiliation":[{"name":"Department of Propaedeutics of Internal Diseases, Pavlov First Saint Petersburg State Medical University, 197022 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2164-2606","authenticated-orcid":true,"given":"Irina V.","family":"Ilyinets","sequence":"additional","affiliation":[{"name":"Children Municipal Multi-Specialty Clinical Center of High Medical Technology Named after K.A. 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The Role of Reverse Cascade Screening in Children with Familial Hypercholesterolemia: A Literature Review and Analysis. Current Atherosclerosis Reports. 2024; 26: 427\u2013433.","DOI":"10.1007\/s11883-024-01211-9"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Wu X, Pang J, Wang X, Peng J, Chen Y, Wang S, et al. Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families. Clinical Cardiology. 2017; 40: 1169\u20131173.","DOI":"10.1002\/clc.22809"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"Bachmeier C, Ungerer J, Pretorius C, Kassianos A, Kostner KM. Universal Paediatric and Newborn Screening for Familial Hypercholesterolaemia\u2014Challenges and Opportunities: An Australian Perspective. Lipidology. 2025; 2: 4.","DOI":"10.3390\/lipidology2010004"},{"key":"ref11","doi-asserted-by":"publisher","unstructured":"Miroshnikova VV, Vasiluev PA, Linkova SV, Soloviov VM, Ivanova ON, Tolmacheva ER, et al. Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice. Journal of Personalized Medicine. 2023; 13: 1492.","DOI":"10.3390\/jpm13101492"},{"key":"ref12","doi-asserted-by":"publisher","unstructured":"Chora JR, Alves AC, Medeiros AM, Mariano C, Lobarinhas G, Guerra A, et al. Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? Journal of Clinical Lipidology. 2017; 11: 477\u2013484.e2.","DOI":"10.1016\/j.jacl.2016.11.002"},{"key":"ref13","doi-asserted-by":"publisher","unstructured":"Miroshnikova VV, Romanova OV, Ivanova ON, Fedyakov MA, Panteleeva AA, Barbitoff YA, et al. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing. 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