| 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. |
| Neoplastic risk | 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) |
| Evolution | clinical heterogeneity, but early death from cachexia and dementia, early cutaneous tumors and atherosclerosis. |
| Note | There is genetic heterogeneity in CS, giving rise to complementation groups the genes involved are: CSA, also called ERCC8 (ERCC for Excision-Repair Cross Complementing rodent repair deficiency) located on chromosome 5, CSB, also called ERCC6 , located in 10q11-21; outside CSA and CSB, there is: 3 patients who are XPB/CS, involving XPB, also called ERCC3, located in 2q21; 2 patients XPD/CS, involving XPD, also called ERCC2, located in 19q13; and 6 patients XPG/CS, involving XPG, 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, Butina MR, Potocnik M |
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| PMID 10954218 |
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| The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair. |
| Brosh RM Jr, Balajee AS, Selzer RR, Sunesen M, Proietti De Santis L, Bohr VA |
| Molecular biology of the cell. 1999 ; 10 (11) : 3583-3594. |
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| DNA repair. The bases for Cockayne syndrome. |
| Hanawalt PC |
| Nature. 2000 ; 405 (6785) : 415-416. |
| PMID 10839526 |
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| UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II. |
| Rockx DA, Mason R, van Hoffen A, Barton MC, Citterio E, Bregman DB, van Zeeland AA, Vrieling H, Mullenders LH |
| Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (19) : 10503-10508. |
| PMID 10973477 |
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| Nucleotide excision repair and human syndromes. |
| de Boer J, Hoeijmakers JH |
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| PMID 10688865 |
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