A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency

A.J.. Hooper; K. Robertson; L. Ng; J.S. Kattampallil; D. Latchem; P.C. Willsher; J. Thom; R.I. Baker; J.R. Burnett

doi:10.1016/j.cca.2009.08.017

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A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency

Journal article

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A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency

A.J.. Hooper, K. Robertson, L. Ng, J.S. Kattampallil, D. Latchem, P.C. Willsher, J. Thom, R.I. Baker and J.R. Burnett

Clinica Chimica Acta, Vol.409(1-2), pp.136-139

2009

DOI: https://doi.org/10.1016/j.cca.2009.08.017

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Abstract

The ATP binding cassette transporter A1 (ABCA1) is involved in the regulation of lipid trafficking and export of cholesterol from cells to high density lipoprotein (HDL). ABCA1 gene defects cause Tangier disease, an autosomal recessive disorder characterised by the absence of HDL-cholesterol in plasma, abnormal deposition of cholesteryl esters in the reticuloendothelial system, defective platelet dense and lysosomal granule release, and disordered cellular cholesterol efflux. We describe the case of a 62-year-old man with Tangier disease who presented with severe anaemia secondary to a spontaneous splenic haematoma. He underwent elective splenectomy without haemorrhage and his thrombocytopaenia resolved with a platelet count rising from 97 to 560 × 109/L. Macroscopically, the resected spleen was enlarged with evidence of splenic haematoma. Histologic analysis of sections of spleen revealed lipid histiocytosis consistent with the diagnosis of Tangier disease. DNA sequence analysis revealed the subject to be a homozygote for a novel ABCA1 mutation c.4121C > T, which changes arginine 1270 to a stop codon (R1270X). In conclusion, we describe a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X.

Details

Title: A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency
Authors/Creators: A.J.. Hooper (Author/Creator) - Royal Perth Hospital
K. Robertson (Author/Creator) - Royal Perth Hospital
L. Ng (Author/Creator) - Department of Histopathology, Western Diagnostic Pathology, Perth, Australia
J.S. Kattampallil (Author/Creator) - Department of Histopathology, Western Diagnostic Pathology, Perth, Australia
D. Latchem (Author/Creator) - Coastal Carolina University
P.C. Willsher (Author/Creator) - Mount Hospital, Perth, Australia
J. Thom (Author/Creator) - Royal Perth Hospital
R.I. Baker (Author/Creator) - School of Medicine and Pharmacology
J.R. Burnett (Author/Creator) - School of Medicine and Pharmacology
Publication Details: Clinica Chimica Acta, Vol.409(1-2), pp.136-139
Publisher: Elsevier B.V.
Identifiers: 991005545051807891
Copyright: © 2017 Elsevier B.V.
Murdoch Affiliation: Institute for Immunology and Infectious Diseases
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.68 Lipids; 1.68.69 Lipoprotein Metabolism
Web Of Science research areas: Medical Laboratory Technology
ESI research areas: Clinical Medicine