Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

• Published in: BioMed research international Vol. 2013; no. 2013; pp. 1 - 7
• Main Authors: Mokni, Mourad, Boubaker, Mohamed Samir, Fazaa, Becima, Yacoub-Youssef, Houda, Abdelhak, Sonia, Jones, Mariem, Chadli-Debbiche, Ashraf, Mbarek, Chiraz, Zghal, Mohamed, Ben Brick, Ahlem Sabrine, Messaoud, Olfa, Jerbi, Manel, Ben Rekaya, Mariem, Boussen, Hamouda
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2013; John Wiley & Sons, Inc; Hindawi Limited
• Subjects: Adolescent; Biomedical research; Cancer; Child; Child, Preschool; Deoxyribonucleic acid; DNA; DNA-Binding Proteins - genetics; Electrophoresis, Agar Gel; Ethnic Groups - genetics; Families & family life; Family; Female; Gene mutations; Genes; Genetic aspects; Genetic counseling; Genetic Heterogeneity; Genetic Loci - genetics; Genetic Predisposition to Disease; Genetic research; Genetic susceptibility; Genomes; Haplotypes - genetics; Health care; Humans; Identification and classification; Life Sciences; Male; Microsatellite Repeats - genetics; Mortality; Mutation; Mutation - genetics; Pedigree; Tunisia; Xeroderma pigmentosum; Young Adult; Tunisia; North Africa
• ISSN: 2314-6133; 2314-6141
• DOI: 10.1155/2013/316286

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.