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

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

来源：Journal of Clinical Lipidology, 2013, 7(1): 82-87.

DOI：10.1016/j.jacl.2012.09.004

• ABCA1 gene
• Central nervous system
• High-density lipoprotein
• Peripheral neuropathy
• Tangier disease

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.

• 出版日期2013-2