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Cockayne syndrome

Written2000-10Claude Viguié
Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France

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Identity

Atlas_Id 10015
Genes implicated inERCC6  ERCC8  
Inheritance Autosomal recessive

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 conditions 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).

  • Bibliography

    Rare case of Cockayne syndrome with xeroderma pigmentosum.
    Bartenjev I, Butina MR, Potocnik M
    Acta dermato-venereologica. 2000 ; 80 (3) : 213-214.
    PMID 10954218
     
    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.
    PMID 10564257
     
    DNA repair. The bases for Cockayne syndrome.
    Hanawalt PC
    Nature. 2000 ; 405 (6785) : 415-416.
    PMID 10839526
     
    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
     
    Nucleotide excision repair and human syndromes.
    de Boer J, Hoeijmakers JH
    Carcinogenesis. 2000 ; 21 (3) : 453-460.
    PMID 10688865
     

    Citation

    This paper should be referenced as such :
    Viguié, C
    Cockayne syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):222-222.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/CockayneID10015.html


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