Communicated by Mark H. Paalman
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome†
Article first published online: 5 NOV 2009
© 2010 Wiley-Liss, Inc.
Volume 31, Issue 2, pages 113–126, February 2010
How to Cite
Laugel, V., Dalloz, C., Durand, M., Sauvanaud, F., Kristensen, U., Vincent, M.C., Pasquier, L., Odent, S., Cormier-Daire, V., Gener, B., Tobias, E.S., Tolmie, J.L., Martin-Coignard, D., Drouin-Garraud, V., Heron, D., Journel, H., Raffo, E., Vigneron, J., Lyonnet, S., Murday, V., Gubser-Mercati, D., Funalot, B., Brueton, L., Sanchez del Pozo, J., Muñoz, E., Gennery, A.R., Salih, M., Noruzinia, M., Prescott, K., Ramos, L., Stark, Z., Fieggen, K., Chabrol, B., Sarda, P., Edery, P., Bloch-Zupan, A., Fawcett, H., Pham, D., Egly, J.M., Lehmann, A.R., Sarasin, A. and Dollfus, H. (2010), Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum. Mutat., 31: 113–126. doi: 10.1002/humu.21154
- Issue published online: 26 JAN 2010
- Article first published online: 5 NOV 2009
- Accepted manuscript online: 5 NOV 2009 12:00AM EST
- Manuscript Accepted: 1 NOV 2009
- Manuscript Received: 16 JUL 2009
- Cockayne syndrome;
Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair pathway. The clinical spectrum of Cockayne syndrome encompasses a wide range of severity from severe prenatal forms to mild and late-onset presentations. We have reviewed the 45 published mutations in CSA and CSB to date and we report 43 new mutations in these genes together with the corresponding clinical data. Among the 84 reported kindreds, 52 (62%) have mutations in the CSB gene. Many types of mutations are scattered along the whole coding sequence of both genes, but clusters of missense mutations can be recognized and highlight the role of particular motifs in the proteins. Genotype–phenotype correlation hypotheses are considered with regard to these new molecular and clinical data. Additional cases of molecular prenatal diagnosis are reported and the strategy for prenatal testing is discussed. Two web-based locus-specific databases have been created to list all identified variants and to allow the inclusion of future reports (www.umd.be/CSA/ and www.umd.be/CSB/). Hum Mutat 31:113–126, 2010. © 2009 Wiley-Liss, Inc.