Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature aging, ocular and cutaneous photosensitivity with increased risk of tumors. XP caused mutations in DNA repair genes that protect cells from UV-induced damage. The current study aims to investigate, on clinical genetic basis, Moroccan patients. We explored direct sequencing the involvement prevalent XPA XPC mutations: nonsense mutation (c.682C>T, p.Arg228X) two-base-pair (2 bp) deletion (c.1643 1644delTG or p.Val548Ala fsX25), respectively, 40 index cases 37 unrelated families population. Results Early manifestations were detected high rate malignancy. Cutaneous lesions progressed malignant tumor 70% cases. Ocular tumors also observed 11 patients including BCC eight cases, SCC three melanoma four Among patients, there 20 homozygous for 2 bp gene 9 carrying mutation. Conclusion These findings obtained present revealed 1644delTG, p.Val548AlafsX25) major cause our c.682C>T (p.Arg228X) relatively associated moderate phenotype group A families. This result will contribute improving molecular diagnosis disease have significant impact care their relatives.