Article
A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.
The Journal of investigative dermatology - 1 Aug 1999
Itoh T, Mori T, Ohkubo H, Yamaizumi M
Abstract excerpt
We report here a patient (Ops1) with clinical photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas. These clinical features are reminiscent of xeroderma pigmentosum. As cells from Ops1 showed normal levels in DNA repair synthesis in vivo (unscheduled DNA...
Topics
- Caffeine
- Codon, Nonsense
- DNA Repair
- DNA Replication
- DNA-Binding Proteins
- Female
- Frameshift Mutation
- Humans
- Kinetics
- Middle Aged
- Phenotype
- Photosensitivity Disorders
- Pyrimidine Dimers
- Ultraviolet Rays
- Xeroderma Pigmentosum