Skip to main content
. Author manuscript; available in PMC: 2014 Nov 21.
Published in final edited form as: DNA Repair (Amst). 2013 May 16;12(8):656–671. doi: 10.1016/j.dnarep.2013.04.018
Disease
Some clinical features
Mutant genes
Xeroderma
Pigmentosum (XP)
sun sensitivity, 10,000X increase skin
cancer, XP neurologic disease (some
patients, especially XP-A)
XPA-G, V
Cockayne Syndrome
(CS)
sun sensitivity, no skin cancer, CS
neurologic disease, progeriod features,
growth defects
CSA, CSB
XP/CS complex sun sensitivity, increased skin cancer,
CS neurologic disease
XPB, XPD, XPG
Trichothiodystrophy
(TTD)
sun sensitivity (some patients), brittle hair,
ichthyosis, TTD neurologic disease
(neurodevelopmental and myelination
abnormalities)
XPD, TTDA, others?
UV-sensitive syndrome
(UVsS)
sun sensitivity, no increased skin cancer,
no neurologic disease
CSA, CSB, UVSSA