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c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum

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Abstract

Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) are responsible for the disease. Among them, the XPC gene is known to be the most mutated in Mediterranean patients. The aim of this study was to determine the frequency of the most common XPC mutation and describe the clinical features of Moroccan patients with xeroderma pigmentosum. Twenty four patients belonging to 21 unrelated Moroccan families and 58 healthy subjects were investigated. After clinical examination, the screening for the c.1643_1644delTG (p.Val548AlafsX25) mutation in the XPC gene was performed by PCR and automated sequencing of exon 9 in all patients and controls. The molecular analysis showed that among the 24 patients, 17 were homozygous for the c.1643_1644delTG mutation and all their tested parents were heterozygous, whereas the others (7 patients) did not carry the mutation. The frequency of this mutation was estimated to be 76.19 % (16/21 families). None of the 58 healthy individuals carried this mutation. In addition, clinical investigation showed that the majority of the patients bearing this mutation have the same clinical features. Our results revealed that the p.Val548AlafsX25 mutation is the major cause (76.19 %) of xeroderma pigmentosum in Moroccan families. This would have an important impact on improving management of patients and their relatives.

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Acknowledgments

We thank all families for their cooperation. We also thank the team of dermatology of Ibn Rochd Hospital (Casablanca, Morocco) for their collaboration and effective participation in this study.

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Authors and Affiliations

  1. Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco

    Mohamed Amine Senhaji, Omar Abidi, Abdelmajid Eloualid & Abdelhamid Barakat

  2. Laboratory of Human Genetics and Molecular Pathology, Faculty of medicine, Hassan II University, Casablanca, Morocco

    Sellama Nadifi

  3. Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco

    Hakima Benchikhi & Khadija Khadir

  4. Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia

    Mariem Ben Rekaya, Olfa Messaoud & Sonia Abdelhak

Authors
  1. Mohamed Amine Senhaji
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  2. Omar Abidi
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  3. Sellama Nadifi
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  4. Hakima Benchikhi
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  6. Mariem Ben Rekaya
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  7. Abdelmajid Eloualid
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  8. Olfa Messaoud
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  9. Sonia Abdelhak
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  10. Abdelhamid Barakat
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Correspondence to Abdelhamid Barakat.

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Senhaji, M.A., Abidi, O., Nadifi, S. et al. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum. Arch Dermatol Res 305, 53–57 (2013). https://doi.org/10.1007/s00403-012-1299-0

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  • DOI: https://doi.org/10.1007/s00403-012-1299-0

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