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PMID: 2478446 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 83 ·No. 4 ·1989-11-00 ·Pages 339-46

Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M

Abstract

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.

MeSH Terms
Cell Survival Cells, Cultured Centrifugation Chloramphenicol O-Acetyltransferase/genetics Chromatin Cockayne Syndrome/genetics Cyclobutanes/metabolism DNA Repair/radiation effects Dwarfism/genetics Female Fibroblasts/cytology Gene Expression Humans Infant Infant, Newborn Male Pyrimidine Dimers RNA/biosynthesis Transfection Ultraviolet Rays
Chemicals
Chromatin Cyclobutanes Pyrimidine Dimers RNA Chloramphenicol O-Acetyltransferase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Jaeken J
Institut für Biochemie der Universität, Innsbruck, Austria.
Klocker H
Schwaiger H
Bellmann R
Hirsch-Kauffmann M
Schweiger M
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291378
Published
1989-11-00
Pages
339-46
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291378 View journal details
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