{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T01:54:35Z","timestamp":1778982875468,"version":"3.51.4"},"reference-count":37,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T00:00:00Z","timestamp":1655164800000},"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 for RCMG"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, and APOA5 genes. Case: We present a clinical case of severe primary hypertriglyceridemia (TG level &gt; 55 mmol\/L in a 4-year-old boy) in a consanguineous family. The disease developed due to a previously undescribed homozygous deletion in the APOA5 gene (NM_052968: c.579_592delATACGCCGAGAGCC p.Tyr194Gly*68). We also evaluate the clinical significance of a genetic variant in the LPL gene (NM_000237.2: c.106G&gt;A (rs1801177) p.Asp36Asn), which was previously described as a polymorphism. In one family, we also present a different clinical significance even in heterozygous carriers: from hypertriglyceridemia to normotriglyceridemia. We provide evidence that this heterogeneity has developed due to polymorphism in the LPL gene, which plays the role of an additional trigger. Conclusions: The homozygous deletion of the APOA5 gene is responsible for the severe hypertriglyceridemia, and another SNP in the LPL gene worsens the course of the disease.<\/jats:p>","DOI":"10.3390\/genes13061062","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T23:50:14Z","timestamp":1655250614000},"page":"1062","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8249-343X","authenticated-orcid":false,"given":"Petr Andreevich","family":"Vasiluev","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"},{"name":"Institute of Gene Biology, The Russian Academy of Sciences, 34\/5 Vavilova Street, 119334 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8366-2004","authenticated-orcid":false,"given":"Olga N.","family":"Ivanova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7041-045X","authenticated-orcid":false,"given":"Natalia A.","family":"Semenova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana V.","family":"Strokova","sequence":"additional","affiliation":[{"name":"Federal Research Centre of Nutrition and Biotechnology, Kashirskoe Shosse, d. 21, 115446 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia N.","family":"Taran","sequence":"additional","affiliation":[{"name":"Federal Research Centre of Nutrition and Biotechnology, Kashirskoe Shosse, d. 21, 115446 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2760-2792","authenticated-orcid":false,"given":"Uliana V.","family":"Chubykina","sequence":"additional","affiliation":[{"name":"Federal State Budget Organization \u00abChazov National Medical Research Center of Cardiology\u00bb of the Ministry of Health of the Russian Federation, 3rd Cherepkovskaya Street 15a, 121552 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1518-6552","authenticated-orcid":false,"given":"Marat V.","family":"Ezhov","sequence":"additional","affiliation":[{"name":"Federal State Budget Organization \u00abChazov National Medical Research Center of Cardiology\u00bb of the Ministry of Health of the Russian Federation, 3rd Cherepkovskaya Street 15a, 121552 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina Y.","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena L.","family":"Dadli","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey I.","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1161\/CIR.0b013e3182160726","article-title":"Triglycerides and cardiovascular disease: A scientific statement from the American Heart Association","volume":"123","author":"Miller","year":"2011","journal-title":"Circulation"},{"key":"ref_2","first-page":"e1082","article-title":"2018 AHA\/ACC\/AACVPR\/ AAPA\/ABC\/ACPM\/ADA\/AGS\/APhA\/ASPC\/NLA\/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines","volume":"139","author":"Grundy","year":"2019","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.amjcard.2010.11.008","article-title":"Prevalence of severe (500 to 2,000 mg\/dl) hypertriglyceridemia in United States adults","volume":"107","author":"Christian","year":"2011","journal-title":"Am. 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