Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, EpiSciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

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
Document type :
Journal articles
Complete list of metadata

https://hal-riip.archives-ouvertes.fr/pasteur-01375193
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Friday, December 9, 2016 - 10:44:08 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

Links full text

Identifiers

Collections

Citation

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⟩

Share

Metrics

Record views

15