First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes

Journal of Clinical Lipidology
Hayato TadaMasa-aki Kawashiri

Abstract

We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. A 1-year-old girl was admitted to Kanazawa University Hospital due to her hyper low-density lipoprotein (LDL)-cholesterolemia (453 mg/dL) as well as intertriginous xanthomas associated with breastfeeding. Initially, she was suspected as familial hypercholesterolemia (FH). However, her LDL cholesterol level significantly reduced after her weaning from breastfeeding. In addition, cascade screening did not show any evidence supporting dominant inheritance pattern as FH. Genetic analyses were performed using custom panel focusing on exome regions of 21 lipid-associated genes, including FH-causing genes (LDL receptor, proprotein convertase subtilisin/kexin type 9, apolipoprotein B), and ABCG5 and ABCG8 genes. In addition to a single deleterious mutation in ABCG5 gene (NM_022436.2:c.1166G>A or NP_071881.1:p.Arg389His), single deleterious mutation in ABCG8 gene (NM_022437.2:c.1285A>C or NP_071882.1:p.Met429Leu) was also identified. Segregations of those mutations from her parents were confirmed. Her serum sitosterol level was significantly elevated to 15.9 μ...Continue Reading

Citations

Mar 14, 2020·The Journal of Gene Medicine·Weiwei SunMingwu Chen
Nov 6, 2018·International Journal of Molecular Sciences·Asier Benito-VicenteCesar Martin
Feb 13, 2019·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Keiko NagaharaYukihiro Hasegawa
Jul 23, 2019·Circulation Journal : Official Journal of the Japanese Circulation Society·Hayato TadaMasa-Aki Kawashiri
Aug 9, 2019·JIMD Reports·Lara VeitJohannes Häberle
Nov 19, 2020·JIMD Reports·Sharmila KissNatasha J Brown
Jan 5, 2021·Current Opinion in Lipidology·Vincent Fong, Shailendra B Patel
Apr 29, 2021·Journal of Atherosclerosis and Thrombosis·Hayato TadaMariko Harada-Shiba

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