Advance of clinical and genetic studies on Cockayne syndrome / 中华实用儿科临床杂志

ABSTRACT

Cockayne syndrome is a rare autosomal recessive disorder with multisystem degenerative disorders caused by DNA repair defect. The patients usually presented with developmental delay,failure to thrive,premature aging,cutaneous photosensitivity and microcephaly. The phenotype was a continuous spectrum,with severity from severe to mild as Cerebro - oculofacio - skeletal syndrome (COFS),Cockayne syndrome type Ⅱ,Cockayne syndrome type Ⅰ, Cockayne syndrome type Ⅲ and ultraviolet ray(UV)- sensitive syndrome. In addition,there is xeroderma pigmentosum -Cockayne syndrome type. Cockayne syndrome manifested as the defect of DNA repair after UV damage cytologically. The main pathogenic genes of Cockayne syndrome are CSA (ERCC8)and CSB (ERCC6). Now,the progress of clinical and genetic studies on Cockayne syndrome were reviewed.