John Libbey Eurotext

European Journal of Dermatology

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form Volume 27, numéro 5, September-October 2017

Illustrations

  • Figure 1
  • Figure 2
  • Figure 3
Auteurs
1 Department of Internal Medicine, American University of Beirut, Beirut, Lebanon
2 Laboratoire d’analyses spécialisé en Génétique Centre médical LES JASMINS, Tunisia
3 Medical student, American University of Beirut, Beirut, Lebanon
4 Department of Biology, American University of Beirut, Beirut, Lebanon
5 Department of Dermatology, American University of Beirut, Beirut, Lebanon
6 Department of Pediatrics, American University of Beirut, Beirut, Lebanon
7 Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon
8 Department of Dermatology, Columbia University, New York, New York, USA
* Reprints
a These authors contributed equally
  • Mots-clés : ABCG8, phytosterolaemia, sitosterolaemia, xanthelasma, xanthoma
  • DOI : 10.1684/ejd.2017.3087
  • Page(s) : 519-23
  • Année de parution : 2017

Background

Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively.