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Research Progress of Cockayne Syndrome

艺佘 任
Published: 1 January 2022

Abstract: Cockayne syndrome (CS) is an autosomal recessive genetic disease with various clinical manifestations. The main pathogenic genes are ERCC6, ERCC8. It’s associated with defects in transcription-coupled nucleotide excision repair (TC-NER), and may be related to defects in transcription, base excision DNA repair, mitochondrial functions, etc. The main clinical manifestations were growth failure, developmental retardation/regression, microcephaly, cutaneous photosensitivity, hearing and visual impairment, presenile face and so on. Neuroimaging shows characteristic performance including leukodystrophy, brain atrophy and intracranial calcification. Its clinical phenotype is divided into CS type I (classical), CS type II (severe) and CS type III (mild). Ultraviolet Susceptibility syndrome (UVSS) and Cerebro-oculo-facio-skeletal Syndrome (COFS) are its variants. It is a rare disease, with a prevalence of approximately 2.7 per million. At present, there are mostly case reports about this disease in China. This article reviews the clinical manifestations, molecular genetics, diagnosis and treatment of the CS in order to improve the knowledge of the disease.
Keywords: clinical manifestations / excision / defects / repair / Cockayne syndrome / functions / treatment / CS type

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