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Abstract

Background: Xeroderma pigmentosum (XP) is a rare hereditary disease characterized by hypersensitivity to UV radiation due to alterations in the nucleotide excision repair (NER) pathway. The XPA and XPC gene mutations are most common in North African countries. Our goal was to perform a molecular study on patients with XP followed in our northeastern Moroccan region to determine their genetic profile. Materials and methods: We explored the nonsense (c.682C> T, p.Arg228X) mutation at the XPA gene and a two-base pair deletion (c.1643_1644delTG or p.Val548Ala fsX25) at the XPC gene level with the molecular PCR sequencing technique. Subsequently, the relationship between the mutations found and the symptomatic and progressive features was analyzed. Results: In the course of our work, the alterations of the two XPA and XPC genes responsible for xeroderma pigmentosum in a sample of 24 index cases belonging to 22 unrelated families were characterized, revealing 14 cases of XPC and 6 cases of XPA. The study on the correlation between genotypes and phenotypes in our study showed that neurological involvement was significant in XPA patients and that these XPA patients develop malignant skin tumors earlier than XPC patients. Conclusions: In our XP population, the alterations of the XPA and XPC genes responsible for xeroderma pigmentosum in a sample of 24 index cases belonging to 22 unrelated families were characterized, revealing 14 cases of XPC and 6 cases of XPA. Neurological involvement was significant in XPA patients and these XPA patients were found to develop malignant skin tumors earlier than XPC patients.