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- Title
A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.
- Authors
Vasiluev, Petr Andreevich; Ivanova, Olga N.; Semenova, Natalia A.; Strokova, Tatiana V.; Taran, Natalia N.; Chubykina, Uliana V.; Ezhov, Marat V.; Zakharova, Ekaterina Y.; Dadli, Elena L.; Kutsev, Sergey I.
- Abstract
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 > 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>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.
- Subjects
LIPID metabolism disorders; HYPERTRIGLYCERIDEMIA; DELETION mutation; GENETIC variation; SYMPTOMS
- Publication
Genes, 2022, Vol 13, Issue 6, p1062
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13061062