A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease

J Clin Lipidol. Jan-Feb 2013;7(1):82-7. doi: 10.1016/j.jacl.2012.09.004. Epub 2012 Sep 29.

Abstract

Tangier disease is a rare autosomal-recessive disorder caused by mutation in the ATP binding cassette transporter 1 (ABCA1) gene. Typically, Tangier disease manifests with symptoms and signs resulting from the deposition of cholesteryl esters in nonadipose tissues; chiefly, in peripheral nerves leading to neuropathy and in reticulo-endothelial organs, such as liver, spleen, lymph nodes, and tonsils, causing their enlargement and discoloration. An association with early cardiovascular disease can be variable. We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Adult
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Colonoscopy
  • Corneal Stroma / metabolism
  • Corneal Stroma / pathology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Muscle, Skeletal / pathology
  • Mutation
  • Pedigree
  • Phenotype
  • Tangier Disease / diagnosis
  • Tangier Disease / genetics*
  • Tomography, X-Ray Computed

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Cholesterol, HDL
  • Cholesterol, LDL