Human Genetics

, Volume 83, Issue 4, pp 339–346 | Cite as

Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome

  • Jaak Jacken
  • Helmut Klocker
  • Helga Schwaiger
  • Romuald Bellmann
  • Monica Hirsch-Kauffmann
  • Manfred Schweiger
Original Investigations


We present clinical and biochemical data from three patients with severe Cockayne syndrome (CS) of very early onset. Unlike in classic CS, signs became evident in the first weeks of life and led to unusually early death. Fibroblasts from two of the patients showed a complete defect of the repair of UV-induced thymine dimer lesions. They were unable to remove thymine dimer lesions from their DNA, had a severe reduction of the RNA synthesis rates after UV irradiation, and showed no reactivation of an UV-inactivated indicator gene and no DNA recondensation after UV irradiation. DNA repair investigated in these two fibroblast cell strains resembled that of xeroderma pigmentosum cells of complementation group A. In contrast, fibroblasts from the third patient showed the same in vitro repair characteristics as classic CS cells.


Fibroblast Cell Thymine Early Death Cell Strain Synthesis Rate 
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Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Jaak Jacken
    • 2
  • Helmut Klocker
    • 1
  • Helga Schwaiger
    • 1
  • Romuald Bellmann
    • 3
  • Monica Hirsch-Kauffmann
    • 3
  • Manfred Schweiger
    • 1
  1. 1.Institut für Biochemie der UniversitätInnsbruckAustria
  2. 2.Division of Metabolism and NutritionUniversity Hospital GasthuisbergLeuvenBelgium
  3. 3.Institut für Medizinische Biologie und Genetik der UniversitätInnsbruckAustria

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