xeroderma pigmentosum complementation group D
xeroderma pigmentosum complementation group D
An autosomal recessive pigmentary skin disorder (OMIM:278730) characterised by photosensivity, high risk of cancer on sun-exposed skin and, in some cases, neurologic defects. Some XP-D patients have features of Cockayne syndrome, i.e., dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia and decreased nerve conduction velocities.Molecular pathology
Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription.