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

Smita I Negi, Ariel Brautbar, Salim S Virani, Aashish Anand, Eliana Polisecki, Bela F Asztalos, Christie M Ballantyne, Ernst J Schaefer, Peter H Jones

Center for Atherosclerosis and Lipoprotein Research, Baylor College of Medicine, Houston, TX 77030, USA.

Journal of clinical lipidology 2013 Jan-Feb

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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. Copyright © 2013 National Lipid Association. All rights reserved.

Citation

Smita I Negi, Ariel Brautbar, Salim S Virani, Aashish Anand, Eliana Polisecki, Bela F Asztalos, Christie M Ballantyne, Ernst J Schaefer, Peter H Jones. A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. Journal of clinical lipidology. 2013 Jan-Feb;7(1):82-7