Cockayne syndrome: a cellular sensitivity to ultraviolet light
Schmickel, R.D.; Chu, E.H.; Trosko, J.E.; Chang, C.C.
Pediatrics 60(2): 135-139
1977
ISSN/ISBN: 0031-4005 PMID: 887325 Document Number: 115012
Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.