Tangier disease phenotype diversity in dizygous twin sisters.

Abstract

INTRODUCTION:

Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholesterol removal and to deposition of cholesterol esters throughout the body.

OBSERVATION:

We report here on the case of a 53-year-old woman with a severe phenotype of TD. The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia.

CONCLUSION:

This family demonstrates the wide intrafamilial phenotype diversity of TD.

• Authors: P Pichit, M Quillard, P Couvert, J Sénant, A Carrié, R Bittar, D Hannequin, L Guyant-Maréchal
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 166 Issue 5 Pg. 534-7 (May 2010) ISSN: 0035-3787 [Print] France
• PMID: 20070997 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Elsevier Masson SAS. All rights reserved.

Chemical References

• ABCA1 protein, human
• ATP Binding Cassette Transporter 1
• ATP-Binding Cassette Transporters
• Hormones
• Lipids

Topics

• ATP Binding Cassette Transporter 1
• ATP-Binding Cassette Transporters (genetics)
• Biopsy
• Demyelinating Diseases (pathology)
• Electrocardiography
• Electroencephalography
• Electromyography
• Female
• Hormones (blood)
• Humans
• Lipids (blood)
• Middle Aged
• Nerve Fibers (pathology)
• Phenotype
• Schwann Cells (pathology)
• Sensory Receptor Cells (pathology)
• Tangier Disease (cerebrospinal fluid, genetics, pathology)
• Twins, Dizygotic