A case of dyskeratosis congenita associated with impaired DNA repair as shown by the comet assay

An 18-year old boy with dyskeratosis congenita is presented. To examine the DNA metabolism of our patient, we applied the comet assay, a simple, quick and sensitive method that so far has not been used in this d isease. After exposure to UVB, cells originating from the patient present a bnormal DNA repair localized in the late step. We consider that such repair deficiency could be related to susceptibility to cancer. The comet assay seems to be a good procedure to investigate dysk eratosis congenita or other genodermatoses.