Phenotypic heterogeneity of sitosterolemia.

Journal of Lipid Research
Jian WangRobert A Hegele

Abstract

Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma concentrations of plant sterols, such as sitosterol. Causative mutations occur in either the ABCG5 or ABCG8 gene, each of which encodes a sterol half-transporter expressed in the intestine. We report five Canadian subjects with nonsense mutations in these half-transporters: four related Caucasian subjects were homozygous for the ABCG8 S107X mutation, and one unrelated Japanese-Canadian subject was homozygous for a complex insertion/deletion (I/D) mutation in ABCG5 exon 3. A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. The largest reductions in plasma concentrations of sitosterol and LDL-cholesterol were seen with ezetimibe or bile acid sequestrant treatment, and less dramatic reductions were seen with statin drug treatment. These findings extend the range of clinical phenotypes in sitosterolemia caused by nonsense mutations in either ABCG5 or ABCG8.

References

Feb 26, 1976·The New England Journal of Medicine·R S ShulmanD S Fredrickson
May 1, 1992·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·G SalenL Nguyen
Mar 1, 1990·Arteriosclerosis : an Official Journal of the American Heart Association, Inc·L NguyenG Ness
Jun 1, 1986·The Journal of Clinical Investigation·R E GreggH B Brewer
Apr 1, 1974·The Journal of Clinical Investigation·A K Bhattacharyya, W E Connor
May 1, 1970·The Journal of Clinical Investigation·G SalenS M Grundy
Jan 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·A SnidermanP O Kwiterovich
Sep 1, 1994·Postgraduate Medical Journal·G M BergerM Biggs
Feb 1, 1997·Endocrine Journal·H HidakaR Kikkawa
Jan 7, 2000·The American Journal of Medicine·M H Moghadasian, J J Frohlich
Mar 27, 2001·Current Opinion in Lipidology·M H LeeS B Patel
Feb 22, 2002·Molecular Genetics and Metabolism·Ching-Wan LamYan-Wo Chan
Mar 14, 2002·Current Opinion in Lipidology·Angelique C M JansenJohn J P Kastelein
Mar 20, 2002·The Journal of Biological Chemistry·Joyce J RepaDavid J Mangelsdorf
Apr 10, 2002·Archives of Neurology·Mohammed H MoghadasianCharles H Scudamore
Aug 2, 2002·Biochemical and Biophysical Research Communications·Alan T RemaleyH Bryan Brewer
Nov 22, 2002·Proceedings of the National Academy of Sciences of the United States of America·Liqing YuHelen H Hobbs
Feb 11, 2004·Circulation·G SalenUNKNOWN Multicenter Sitosterolemia Study Group

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Citations

Jun 4, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuLow-Tone Ho
May 21, 2008·Current Atherosclerosis Reports·Tisha Joy, Robert A Hegele
Jul 21, 2004·Proceedings of the National Academy of Sciences of the United States of America·Klára KitajkaLászló G Puskás
May 14, 2014·Current Atherosclerosis Reports·Joan Carles Escolà-GilFrancisco Blanco-Vaca
Jun 5, 2014·Current Cardiology Reports·Sali M K Farhan, Robert A Hegele
Feb 20, 2016·Journal of Clinical Lipidology·Ana Gabriela Colima FaustoMaría Teresa Magaña Torres
Nov 16, 2006·Expert Opinion on Therapeutic Targets·Irene F Gazi, Dimitri P Mikhailidis
Mar 10, 2010·Expert Opinion on Pharmacotherapy·D Meeike KustersBarbara A Hutten
Nov 8, 2015·Clinica Chimica Acta; International Journal of Clinical Chemistry·I Ramasamy
Jun 2, 2016·Molecular Genetics & Genomic Medicine·Barbara Triggs-RaineElizabeth L Spriggs
Dec 7, 2011·Best Practice & Research. Clinical Rheumatology·Gérard ChalèsPascal Guggenbuhl
May 27, 2011·Journal of Clinical Lipidology·Paul N HopkinsUNKNOWN National Lipid Association Expert Panel on Familial Hypercholesterolemia
Dec 30, 2008·Clinica Chimica Acta; International Journal of Clinical Chemistry·Masako TogoKazuhisa Tsukamoto
Nov 21, 2007·Molecular Genetics and Metabolism·Amit R Rahalkar, Robert A Hegele
Mar 19, 2008·American Journal of Medical Genetics. Part a·Kym M BoycottA Micheil Innes
Jan 9, 2007·Journal of the European Academy of Dermatology and Venereology : JEADV·S S S GuiradoJ V Ortíz
Nov 3, 2007·European Journal of Clinical Investigation·L MannucciC Cortese
Jul 31, 2014·Arthritis Care & Research·Ximena D RuizKimberly P Liang
Oct 30, 2013·American Journal of Hematology·Zhaoyue WangChanggeng Ruan
Nov 26, 2013·Atherosclerosis·Rgia A OthmanPeter J H Jones
Aug 23, 2011·Biochimica Et Biophysica Acta·Jesús Méndez-GonzálezJoan Carles Escolà-Gil
Apr 23, 2016·Annals of Pediatric Endocrinology & Metabolism·Eun-Gyong Yoo
Mar 19, 2014·Journal of the American College of Cardiology·Allan D SnidermanSergio Fazio
Aug 21, 2014·The Canadian Journal of Cardiology·Amanda Brahm, Robert A Hegele
Jun 5, 2012·Journal of Clinical Lipidology·W Virgil BrownChristie Ballantyne
Sep 18, 2012·American Journal of Human Genetics·Jessica X ChongCarole Ober
Aug 14, 2012·Atherosclerosis·J David SpenceJean Davignon
Dec 3, 2014·The Journal of Pediatrics·Rgia A OthmanPeter J H Jones
Oct 28, 2016·The Journal of Dermatology·Takenobu YamamotoWataru Fujimoto
Dec 29, 2016·European Journal of Human Genetics : EJHG·Amanda J HooperJohn R Burnett
Jul 13, 2018·Journal of Atherosclerosis and Thrombosis·Hayato TadaMasa-Aki Kawashiri
Jan 16, 2014·The Journal of Clinical Endocrinology and Metabolism·Joong Heum ParkEun-Gyong Yoo
Mar 14, 2020·The Journal of Gene Medicine·Weiwei SunMingwu Chen
Jun 30, 2019·Der Internist·D Lütjohann
Oct 4, 2017·American Journal of Hematology·Immacolata AndolfoAchille Iolascon
Jul 24, 2018·Journal of Atherosclerosis and Thrombosis·Hayato TadaMasa-Aki Kawashiri
Aug 9, 2019·JIMD Reports·Lara VeitJohannes Häberle
Aug 9, 2020·Arteriosclerosis, Thrombosis, and Vascular Biology·Robert A Hegele, Jacqueline S Dron

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