Cockayne syndrome

2000-10-01   Claude Viguié  

Identity

Name

Cockayne syndrome

Inheritance

Autosomal recessive

Omim

133540 , 216400

Mesh

D003057

Orphanet

191 Cockayne syndrome

Umls

C0009207

Clinics

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.

    Cytogenetics

    Inborn condition

    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

    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).

    • Article Bibliography

    Pubmed IDLast YearTitleAuthors
    109542182000Rare case of Cockayne syndrome with xeroderma pigmentosum.Bartenjev I et al
    105642571999The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.Brosh RM Jr et al
    108395262000DNA repair. The bases for Cockayne syndrome.Hanawalt PC et al
    109734772000UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II.Rockx DA et al
    106888652000Nucleotide excision repair and human syndromes.de Boer J et al