Cancer prone diseases
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191 Cockayne syndrome
Phenotype and clinics
normal newborn; growth failure from the age of six months; diagnosis from the age of two years on :
senile appearance of the skin (pigmentation, atrophy) with \"mickey mouse\" aspect (microcephaly, large ears, large nose, deep set eyes).
\"senil dwarf\" aspect in contrast with long limbs, large hands and feet, cold fingers with cyanosis, flexion contractures of joints
sensitivity to sunligth
severe encephalopathia with profond mental retardation and sensory disorders (deafness, optic atrophy)
pigmentary retinitis leading to cecity
other disorders: hypertension, early atherosclerosis, intracranial calcification, glomerulosclerosis.
no increased susceptibility to skin tumors and other cancers, except for Cockayne syndrome expressing xeroderma pigmentosum (XP) symptoms (association with XPG, XPD or XPB group)
clinical heterogeneity, but early death from cachexia and dementia, early cutaneous tumors and atherosclerosis.
as in XP, the UV ligth-induced level of sister chromatid exchange (SCE) is increased as well as the rate of chromosome aberrations, mainly chromatid breaks
Genes involved and Proteins
There is genetic heterogeneity in CS, giving rise to complementation groups
the genes involved are:
, also called ERCC8 (ERCC for Excision-Repair Cross Complementing rodent repair deficiency) located on chromosome 5,
, also called ERCC6 , located in 10q11-21; outside CSA and CSB, there is: 3 patients who are XPB\/CS, involving
, also called ERCC3, located in 2q21; 2 patients XPD\/CS, involving
, also called ERCC2, located in 19q13; and 6 patients XPG\/CS, involving
, also called ERCC5, located in 13q32 (note: the class of patients with both XP and CS were classified earlier as CS III, but not anymore).
Rare case of Cockayne syndrome with xeroderma pigmentosum.
Bartenjev I et al
The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.
Brosh RM Jr et al
DNA repair. The bases for Cockayne syndrome.
Hanawalt PC et al
UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II.
Rockx DA et al
Nucleotide excision repair and human syndromes.
de Boer J et al
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