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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel SACS gene mutation in a Tunisian family
Journal of Molecular Neuroscience, Volume 39, No. 3, Year 2009
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Description
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary earlyonset spastic ataxia. In 2000, the causative gene, SACS, encoding the protein sacsin, was identified in Quebec patients. The open reading frame (ORF) of SACS was initially reported to contain 11,487 bp and to be encoded by a single gigantic exon. Recently, eight additional exons upstream of the original ORF were found (ENST00000382298). We report four Tunisian ARSACS patients homozygous for a novel mutation in SACS exon 9 gene, c.12846-12850delAGAG. This mutation is localized upstream from the DnaJ domain leading to the loss of this domain, suggesting that the disease is associated with loss of critical chaperone function of sacsin. Copyright © Humana Press 2009.
Authors & Co-Authors
Bouhlal, Yosr
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
El Euch-Fayeche, Ghada
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Statistics
Citations: 20
Authors: 4
Affiliations: 1
Identifiers
Doi:
10.1007/s12031-009-9212-9
ISSN:
08958696
Research Areas
Cancer
Genetics And Genomics