Abstract: Objective　To explore the clinical, radiological and gene mutation features of ERCC8 gene in one patient with Cockayne syndrome. Methods　Clinical and radiological data of a girl diagnosed with Cockayne syndrome through gene detection were retrospectively analyzed. Next-generation sequencing was used to detect genetic cause. Sanger sequencing was used to confirm the candidate variants and detect mutations in her parents and sister. Results　The patient showed psychomotor retardation, growth failure, special face, and light sensitivity. Neurological examination revealed noticeable developmental delay, motor impairment, spastic paralysis, and cerebellar ataxia. Brain MRI revealed symmetrical demyelination of bilateral centrum semiovale and periventricular white matter. The cerebellum was atrophic. The patient was found to have compound heterozygous mutations of c.397C>T(p.Q133X) and c.394＿398del(p.L132fs). Sanger sequencing showed these two mutations were inherited from her mother and father respectively. Conclusions　Next-generation sequencing technology is a useful tool for the detection of mutation in ERCC8 gene, which is valuable for the diagnosis of Cockayne syndrome. These two mutations expanded the mutation spectrum of Cockayne syndrome in Chinese population.