Article
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
Human molecular genetics - 1 May 1999
Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann A R, Stefanini M
Abstract excerpt
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity. Cultured cells from sun-sensitive CS patients are hypersensitive to ultraviolet (UV) light and, following UV irradiation, are unable to restore RNA synthesis rates to normal levels. This has...
Topics
- Child, Preschool
- Cockayne Syndrome
- DNA Helicases
- DNA Repair
- DNA Repair Enzymes
- Fibroblasts
- Genetic Complementation Test
- Heterozygote
- Humans
- Infant
- Italy
- Mutation
- Photosensitivity Disorders
- Poly-ADP-Ribose Binding Proteins