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BioMed Research International
Volume 2013 (2013), Article ID 316286, 7 pages
http://dx.doi.org/10.1155/2013/316286
Research Article

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

1Laboratoire de Génomique Biomédicale et Oncogénétique (LR 11 IPT 05), Institut Pasteur de Tunis and Université de Tunis El Manar, El Manar I, 2092 Tunis, Tunisia
2Département de Dermatologie, Hôpital Charles Nicolle de Tunis, 1006 Tunis, Tunisia
3Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Habib Thameur, 1008 Tunis, Tunisia
4Unité de recherche “Troubles Héréditaires de la Kératinisation” UR 24/04, Hôpital La Rabta de Tunis, 1007 Tunis, Tunisia
5Département de Dermatologie, Hôpital La Rabta de Tunis, 1007 Tunis, Tunisia
6Département d'Oncologie Médicale, Hôpital Abderrahman Mami, 2080 Ariana, Tunisia
7Laboratoire d'Anatomie Pathologique Humaine et Expérimentale, Institut Pasteur de Tunis, 1002 Tunis, Tunisia

Received 3 April 2013; Revised 27 May 2013; Accepted 2 July 2013

Academic Editor: Sanford I. Bernstein

Copyright © 2013 Mariem Ben Rekaya et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.