Extreme sunburn sensitivity. Hypersensitivity of the skin to ultraviolet light-induced freckle-like pigmentation changes. Unlike in other XP groups, skin cancer is relatively uncommon in XPGpatients. Neurological degeneration occurs, resulting in sensorineural deafness, ataxia, areflexia, microcephaly and intellectual deficiency.
Mutations resulting in truncation of the XPG protein usually result in a very severe phenotype with clinical features of both XP and Cockayne Syndrome.
XPG