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Journal of Clinical Lipidology
Year: 2013  |  Volume: 7  |  Issue: 1  |  Page No.: 82 - 87

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 and Peter H. Jones    

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.

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