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A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.
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.
Afiliação
  • Vasiluev PA; Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.
  • Ivanova ON; Institute of Gene Biology, The Russian Academy of Sciences, 34/5 Vavilova Street, 119334 Moscow, Russia.
  • Semenova NA; Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.
  • Strokova TV; Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.
  • Taran NN; Federal Research Centre of Nutrition and Biotechnology, Kashirskoe Shosse, d. 21, 115446 Moscow, Russia.
  • Chubykina UV; Federal Research Centre of Nutrition and Biotechnology, Kashirskoe Shosse, d. 21, 115446 Moscow, Russia.
  • Ezhov MV; Federal State Budget Organization «Chazov National Medical Research Center of Cardiology¼ of the Ministry of Health of the Russian Federation, 3rd Cherepkovskaya Street 15a, 121552 Moscow, Russia.
  • Zakharova EY; Federal State Budget Organization «Chazov National Medical Research Center of Cardiology¼ of the Ministry of Health of the Russian Federation, 3rd Cherepkovskaya Street 15a, 121552 Moscow, Russia.
  • Dadli EL; Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.
  • Kutsev SI; Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.
Genes (Basel) ; 13(6)2022 06 14.
Article em En | MEDLINE | ID: mdl-35741823
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pancreatite / Hipertrigliceridemia Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Federação Russa

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pancreatite / Hipertrigliceridemia Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Federação Russa