title: 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.
authors.affiliation: Molecular Investigation of Genetic Orphan Diseases' Research Unit, Pasteur Institute of Tunis, Tunis, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Ben Rekaya
authors.forename: O
authors.initials: O
authors.lastname: Messaoud
authors.forename: F
authors.initials: F
authors.lastname: Talmoudi
authors.forename: S
authors.initials: S
authors.lastname: Nouira
authors.forename: H
authors.initials: H
authors.lastname: Ouragini
authors.forename: A
authors.initials: A
authors.lastname: Amouri
authors.forename: H
authors.initials: H
authors.lastname: Boussen
authors.forename: S
authors.initials: S
authors.lastname: Boubaker
authors.forename: M
authors.initials: M
authors.lastname: Mokni
authors.forename: I
authors.initials: I
authors.lastname: Mokthar
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M
authors.initials: M
authors.lastname: Zghal
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human