Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Background: Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity and an abnormal cellular response to UV light due to mutations in either the / or / gene. Studies performed thus far have failed to delineate clear genotype-phenotype relationships.