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Molecular Analysis of Mutations in the CSB(ERCC6) Gene in Patients with Cockayne Syndrome
journal contribution
posted on 2023-06-08, 06:01 authored by Donna L Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J van Gool, Christine Troelstra, Miria Stefanini, Alan LehmannAlan LehmannCockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation. Two complementation groups (CS-A and CS-B) have been identified, and 80% of patients have been assigned to the CS-B complementation group. We have analyzed the sites of the mutations in the CSB gene in 16 patients, to determine the spectrum of mutations in this gene and to see whether the nature of the mutation correlates with the type and severity of the clinical symptoms. In nine of the patients, the mutations resulted in truncated products in both alleles, whereas, in the other seven, at least one allele contained a single amino acid change. The latter mutations were confined to the C-terminal two-thirds of the protein and were shown to be inactivating by their failure to restore UV-irradiation resistance to hamster UV61 cells, which are known to be defective in the CSB gene. Neither the site nor the nature of the mutation correlated with the severity of the clinical features. Severe truncations were found in different patients with either classical or early-onset forms of the disease.
History
Publication status
- Published
Journal
American Journal of Human GeneticsISSN
0002-9297Publisher
American Journal of Human GeneticsExternal DOI
Issue
1Volume
62Page range
77-85ISBN
0002-9297Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06Usage metrics
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