Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome

Laugel, V. et al. (2010) Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome. Human Mutation, 31(2), pp. 113-126. (doi:10.1002/humu.21154)

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Abstract

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 Mutant 31:113-126, 2010. (C) 2009 Wiley-Liss, Inc

Item Type:Articles
Keywords:CANCER PREDISPOSITION CELLULAR-SENSITIVITY Cockayne syndrome CSA CSB CSB PROTEIN DIAGNOSIS DISEASE ERCC6 ERCC8 GENE Impairment OXIDATIVE DNA-DAMAGE PATHWAY PRENATAL-DIAGNOSIS RNA-POLYMERASE-II SYNDROME GROUP-B SYNDROME TYPE-A UV-SENSITIVE SYNDROME XERODERMA-PIGMENTOSUM
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Tolmie, Dr John and Tobias, Professor Edward
Authors: 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., del Pozo, J. S., Munoz, 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.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities
Journal Name:Human Mutation
ISSN:1059-7794

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