Case Reports
Cockayne syndrome: a cellular sensitivity to ultraviolet light
- PMID: 887325
Item in Clipboard
Case Reports
Cockayne syndrome: a cellular sensitivity to ultraviolet light
Pediatrics.
1977 Aug.
Abstract
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.
Similar articles
-
Roles of poly(ADP-ribose) synthesis in repair and replication in normal human, Cockayne syndrome, and xeroderma pigmentosum fibroblasts after UV irradiation.Princess Takamatsu Symp. 1983;13:209-18. Princess Takamatsu Symp. 1983. PMID: 6418714
-
Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis.J Invest Dermatol. 1978 May;70(5):237-9. doi: 10.1111/1523-1747.ep12541383. J Invest Dermatol. 1978. PMID: 641373
-
Transient expression of a plasmid gene, a tool to study DNA repair in human cells: defect of DNA repair in Cockayne syndrome; one thymine cyclobutane dimer is sufficient to block transcription.Eur J Cell Biol. 1986 Jan;39(2):346-51. Eur J Cell Biol. 1986. PMID: 3956512
-
[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].J Med Liban. 1999 Mar-Apr;47(2):144-7. J Med Liban. 1999. PMID: 10410472 Review. French.
-
Yearly review: new forms of diseases with DNA repair defects.Photochem Photobiol. 1979 Dec;30(6):739-41. doi: 10.1111/j.1751-1097.1979.tb07207.x. Photochem Photobiol. 1979. PMID: 394167 Review. No abstract available.
Cited by
-
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.Genet Mol Biol. 2020 May 20;43(1 suppl. 1):e20190085. doi: 10.1590/1678-4685-GMB-2019-0085. eCollection 2020. Genet Mol Biol. 2020. PMID: 32453336 Free PMC article.
-
A clinical study of a family with Cockayne's syndrome.J Med Genet. 1981 Aug;18(4):288-93. doi: 10.1136/jmg.18.4.288. J Med Genet. 1981. PMID: 7277423 Free PMC article.
-
Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells.Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4306-11. doi: 10.1073/pnas.94.9.4306. Proc Natl Acad Sci U S A. 1997. PMID: 9113985 Free PMC article.
-
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.J Inherit Metab Dis. 1988;11(1):88-102. doi: 10.1007/BF01800059. J Inherit Metab Dis. 1988. PMID: 3128691
-
Renal lesions in Cockayne syndrome.Pediatr Nephrol. 1988 Apr;2(2):239-43. doi: 10.1007/BF00862599. Pediatr Nephrol. 1988. PMID: 3153017 Review.