Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

Imen Dorboz 1, 2 Eléonore Eymard-Pierre 3, 1 Rym Kefi 4 Sonia Abdelhak 4 Najoua Miladi 2 Odile Boespflug-Tanguy 1, 3 Tunisian Leukodystrophy Study Grp
1 GReD - Génétique, reproduction et développement
2 Child Neurological Diseases Unit [Tunis]
3 Cytogénétique Médicale
4 Institut Pasteur de Tunis
Abstract : Metachromatic leukodystrophy (WILD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MILD in Tunisian population. Two Tunisian patients with late infantile MILD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G. This is the first mutation of ARSA gene described in Tunisian population. (C) 2009 Elsevier B.V. All rights reserved.
Keywords : Metachromatic leukodystrophy Arylsulfatase A ARSA Cerebroside sulfate sulfatase Lysosome Mutation analysis
Type de document :
Article dans une revue
Journal of the Neurological Sciences, Elsevier, 2009, 287 (1-2), pp.278-280. 〈10.1016/j.jns.2009.07.023〉
Liste complète des métadonnées
https://hal-riip.archives-ouvertes.fr/pasteur-01375329
Contributeur : Institut Pasteur Tunis <>
Soumis le : lundi 9 janvier 2017 - 16:01:44
Dernière modification le : lundi 8 octobre 2018 - 17:44:08

Identifiants

Collections

RIIP | PRES_CLERMONT | GRED | RIIP_TUNIS

Citation

Imen Dorboz, Eléonore Eymard-Pierre, Rym Kefi, Sonia Abdelhak, Najoua Miladi, et al.. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). Journal of the Neurological Sciences, Elsevier, 2009, 287 (1-2), pp.278-280. 〈10.1016/j.jns.2009.07.023〉. 〈pasteur-01375329〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

50

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD