Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitiv ity and a characteristic progressive facial appearance. In the present stud y we report the first Brazilian CS family in which diagnosis was confirmed by the demonstration of decreased RNA synthesis in cultured fibroblasts exp osed to UV-C radiation. Despite the progressive course of the disease and t he unavailability of an effective treatment, diagnosis may be very importan t for the benefits to be gained by the afflicted family from genetic counse ling and/or prenatal diagnosis.