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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Further evidence of mutational heterogeneity of the XPC gene in tunisian families: A spectrum of private and ethnic specific mutations
BioMed Research International, Volume 2013, Article 316286, Year 2013
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Description
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. © 2013 Mariem Ben Rekaya et al.
Authors & Co-Authors
Ben Rekaya, Mariem
Tunisia, Tunis
Institut Pasteur de Tunis
Jerbi, Manel
Tunisia, Tunis
Institut Pasteur de Tunis
Messaoud, Olfa
Tunisia, Tunis
Institut Pasteur de Tunis
Ben Brick, Ahlem Sabrine
Tunisia, Tunis
Institut Pasteur de Tunis
Zghal, Mohammed
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Mbarek, Chiraz H.
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Habib Thameur
Chadli-Debbiche, Aschraf
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Habib Thameur
Jones, M.
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Mokni, Mourad
Tunisia, Tunis
Hôpital la Rabta
Boussen, Hamouda
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Ariana
Université de Tunis el Manar, Hôpital Abderrahmène Mami
Boubaker, Mohamed Samir
Tunisia, Tunis
Institut Pasteur de Tunis
Fazaa, Bassima
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Yacoub-Youssef, H.
Tunisia, Tunis
Institut Pasteur de Tunis
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Statistics
Citations: 16
Authors: 14
Affiliations: 5
Identifiers
Doi:
10.1155/2013/316286
ISSN:
23146133
e-ISSN:
23146141
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Locations
Tunisia