A novel mutation in the ABCA1 gene causing an atypical phenotype of 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.
Center for Atherosclerosis and Lipoprotein Research, Baylor College of Medicine, Houston, TX 77030, USA.
Smita I
SI
Negi
Ariel
A
Brautbar
Salim S
SS
Virani
Aashish
A
Anand
Eliana
E
Polisecki
Bela F
BF
Asztalos
Christie M
CM
Ballantyne
Ernst J
EJ
Schaefer
Peter H
PH
Jones
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003113:Colonoscopy; D003319:Corneal Stroma / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013631:Tangier Disease / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL