A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1

American Journal of Medical Genetics. Part a
Jing-Zhi GuanM R Hayden

Abstract

Tangier disease (TD), a rare disorder characterized by extremely low levels of high density lipoprotein cholesterol (HDL-C), is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we describe a new patient with TD. The 42-year-old proband had obvious juvenile cataracts, mild hepatosplenomegaly, and an extremely low level of HDL-C (1 mg/dl), consistent with the diagnosis of TD. The proband was homozygous for a novel CTC6914-6TT --> 2203X mutation in the carboxy terminus of the ABCA1 protein. ApoAI-mediated cholesterol efflux from patient fibroblasts was markedly decreased compared to control, despite normal levels of protein expression. This indicates that this mutant protein is normally transcribed and exists as a stable product, yet is functionally defective. These results point to a critical role for the intracellular C-terminal region of the ABCA1 gene product in regulating cholesterol efflux and HDL-cholesterol levels.

References

Aug 16, 2001·The Journal of Biological Chemistry·X FuE G Lund
Mar 16, 2002·Laboratory Investigation; a Journal of Technical Methods and Pathology·Cheryl L WellingtonMichael R Hayden
Jun 11, 2002·Biochemical and Biophysical Research Communications·Christa BuechlerGerd Schmitz
May 24, 2003·Arteriosclerosis, Thrombosis, and Vascular Biology·Roshni R SingarajaMichael R Hayden
Dec 4, 2003·Journal of Clinical Pathology·G KolovouD V Cokkinos

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Citations

Jan 21, 2015·Progress in Lipid Research·Liam R Brunham, Michael R Hayden

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