Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

Xeroderma pigmentosum (XP) is a rare, autosomal, recessive disease caused by defective repair of UV-induced DNA lesions due to various genetic defects affecting genes involved in the nucleotide excision repair (NER) pathway. Seven complementation groups have been described and named XP-A to XP-G, (OMIM 278700, 610651, 278720, 278730, 278740, 278760, 278780) with an additional XP variant form due to a defect in translesion DNA synthesis (OMIM 278750). Clinical manifestations are caused by the cutaneous and mucosal hypersensitivity to UV exposure, which induces multiple precocious cancerous lesions and premature skin aging. This article is protected by copyright. All rights reserved.