syndrome (CS) is a rare, autosomal-recessive disorder that was first described
in 1936 by Edward Cockayne in 2 siblings from great Ormand street hospital London.
Patients were described to have distinct physical characteristics- smaller
heads, smaller and sunken eyes along with a more prominent. Further physical
characteristics were slender trucks with disproportionally longer limbs and
bigger feet partnered with dwarfism, hearing loss, cataracts and cognitive
underlying cause for these systems is a defect in nucleotide excision repair,
more specifically TC-NER. Patients usually have a mortality rate of 10-20 years
for type I (moderate),2-7 yers for type II (severe) and 40-50 years for type
III(mild) according to the National
institute of health genetic and rare disease sector. Mutations in CSA
and CSB gene. These genes are responsible for the production of CSA and CSB
proteins that are imperative in the TC-NER pathway ((165 Henning,Karla A. 1995;)). Defects in
their structure render them less able or completely unable to play a role in
the repair of UV damaged DNA as previously explained.