WHAT IS IT?

Cockayne Syndrome (CS) is a multisystem rare disorder characterized by different clinical manifestations resembling accelerated aging, such as severe neurological impairments, pigmentary retinopathy, speech and muscle contraction, and deafness, among others. CS is an infantile disease with a prevalence of 2.7 per 1 million births in western Europe, resulting in premature death by 12 years of age on average.

CS is an autosomal recessive disorder, which can be divided into two groups according to the gene mutated: mutations in gene ERCC8 (Gene ID: 1161) origins CS type A (or CSA; OMIM: #216400), while mutations in gene ERCC6 (Gene ID: 2074) leads to CS type B (or CSB; OMIM: #133540). Currently, there have been reported 103 mutations associated with CSB. CSB is considered a type II CS, presenting more severe symptoms and earlier onset age, typically after birth. 

Molecularly, CSB disease is characterized by defective DNA repair. The cells in the human organism are subjected to tens of thousands of DNA lesions daily, including UV light or ionizing radiation. Therefore, the proper function of DNA repair mechanisms is essential to prevent cell damage and death.

Currently, only symptomatic treatment is available to patients suffering from CSB. Therefore, there are no therapeutic solutions able to stop or slow disease progression.