Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum

Background: Xeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer. The different XP subtypes, which are caused by mutations of 8 distinct genes, show some specific clinical manifestations. XP variant (XPV) is caused by mutations in the gene encoding DNA polymerase eta (POLH). Case Presentation: We report a family that included 2 XP...