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

M. Ben Rekaya (1) , O. Messaoud (1) , F. Talmoudi (1) , S. Nouira (1) , H. Ouragini (1) , A. Amouri (1) , H. Boussen (1, 2) , M. Mokni (3, 4) , S. Boubaker (1) , I. Mokthar (5) , S. Abdelhak (1) , M. Zghal (5)

1 Institut Pasteur de Tunis
2 Department of Medical Oncology
3 Study of Hereditary Keratinization Disorders Research Unit
4 Department of Dermatology
5 Department of Dermatology

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

Mots clés: founder effect; genetic counseling; molecular diagnosis; recurrent mutation; xeroderma pigmentosum

Domaines: Sciences du Vivant [q-bio]

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, 2009, 54 (7), pp.426-429. ⟨10.1038/jhg.2009.50⟩. ⟨pasteur-01375193⟩