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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.


  

Author Contacts

Hassen Kamoun
Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax
Avenue Majida Boulila
Sfax 3029 (Tunisia)
E-Mail hassen.kamoun@yahoo.fr and fakhrikallabi@yahoo.fr

  

Article Information

Received: November 5, 2012
Accepted after revision: February 5, 2013
Published online: May 3, 2013
Number of Print Pages : 5
Number of Figures : 5, Number of Tables : 0, Number of References : 10

  

Publication Details

Neurodegenerative Diseases

Vol. 12, No. 4, Year 2013 (Cover Date: October 2013)

Journal Editor: Nitsch R.M. (Zürich), Hock C. (Zürich), Rajendran L. (Zürich)
ISSN: 1660-2854 (Print), eISSN: 1660-2862 (Online)

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


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


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