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High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

Abstract : Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic investigation of XP-C patients in 14 Tunisian families. As the XPC V548A fs X572 mutation has been identified in Algerian and Moroccan populations, Tunisian patients were first screened for this mutation by a direct sequencing of exon 9 of the XPC gene. All patients with a severe clinical form had this mutation, thus showing the homogeneity of the mutational spectrum of XPC in Tunisia. A potential founder effect was searched and confirmed by haplotype analysis. Taking into account the similarity of the genetic background, we propose a direct screening of this mutation as a rapid and cost-effective tool for the diagnosis of XP-C in North Africa. Journal of Human Genetics (2009) 54, 426-429; doi: 10.1038/jhg.2009.50; published online 29 May 2009
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https://hal-riip.archives-ouvertes.fr/pasteur-01375193
Contributor : Institut Pasteur Tunis <>
Submitted on : Friday, December 9, 2016 - 10:44:08 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

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M. Ben Rekaya, O. Messaoud, F. Talmoudi, S. Nouira, H. Ouragini, et al.. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. Journal of Human Genetics, Nature Publishing Group, 2009, 54 (7), pp.426-429. ⟨10.1038/jhg.2009.50⟩. ⟨pasteur-01375193⟩

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