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Vol. 12, No. 4, 2013
Issue release date: October 2013
Section title: Original Paper
Neurodegener Dis 2013;12:207-211
(DOI:10.1159/000346680)

Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene

Kallabi F. · Hadj Salem I. · Ben Salah G. · Ben Turkia H. · Ben Chehida A. · Tebib N. · Fakhfakh F. · Kamoun H.
aLaboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, and bService de Génétique Médicale, Hôpital Hédi Chaker, Sfax, and cService de Pédiatrie, Hôpital La Rabta de Tunis, Tunis, Tunisia

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/5/2012 12:27:56 PM
Accepted: 2/5/2013
Published online: 5/3/2013

Number of Print Pages: 5
Number of Figures: 5
Number of Tables: 0

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD

Abstract

Background: X-linked adrenoleukodystrophy (X-ALD) is a recessive neurodegenerative disorder that affects the brain's white matter and is associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues, especially in the cortex of the adrenal glands and the white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison's disease). X-ALD is caused by a mutation in the ABCD1 gene (ATP-binding cassette, subfamily D, member 1), which encodes the adrenoleukodystrophy protein involved in the transport of fatty acids into the peroxisome for degradation. Objective: We report here a disease-related variant in the ABCD1 gene in a 19-year-old Tunisian boy with childhood cerebral adrenoleukodystrophy. Methods: The diagnosis was based on clinical symptoms, high levels of VLCFA in plasma, typical MRI pattern and molecular analysis. Results: Molecular analysis by direct sequencing of the ABCD1 gene showed the presence of a novel missense mutation c.284C>A (p.Ala95Asp) occurring in the transmembrane domain in the proband, his mother and his sister. Conclusion: Using bioinformatic tools we suggest that this novel variant may have deleterious effects on adrenoleukodystrophy protein structure and function.


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/5/2012 12:27:56 PM
Accepted: 2/5/2013
Published online: 5/3/2013

Number of Print Pages: 5
Number of Figures: 5
Number of Tables: 0

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

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    External Resources

  7. Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Geraghty M: X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochem Res 1999;24:521-535.
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    External Resources

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