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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Vincent Laugel 1, * Cécile Dalloz 1 M. Durand 1 Florence Sauvanaud 1 Hans-Ulrik Kristensen 2 Marie-Claire Vincent 3 Laurent Pasquier 4 Sylvie Odent 4 Valérie Cormier-Daire 5 Blanca Gener 6 Edward Spencer Tobias 7 John Lorimer Tolmie 7 Dominique Martin-Coignard 8 Valérie Drouin-Garraud 9 Delphine Heron 10 Hubert Journel 11 Emmanuel Raffo 12 Jaqueline Vigneron 13 Stanislas Lyonnet 5 Victoria Alice Murday 7 Danielle Gubser-Mercati 14 Benoît Funalot 15, 16 Louise Brueton 17 Jaime Sanchez del Pozo 18 E. Muñoz 19 Andrew R. Gennery 20 M. Salih 21 Mehrdad Noruzinia 22 K. Prescott 23 L. Ramos 24 Zornitza Stark 25 Karen Fieggen 26 Brigitte Chabrol 27 Pierre Sarda 28 Patrick Edery 29 Agnès Bloch-Zupan 30 H. Fawcett 31 Danièle Pham 32 Jean-Marc Egly 2 Alan R. Lehmann 31 Alain Sarasin 32 Hélène Dollfus 1 
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 ( and
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Submitted on : Thursday, November 26, 2009 - 5:32:50 PM
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Vincent Laugel, Cécile Dalloz, M. Durand, Florence Sauvanaud, Hans-Ulrik Kristensen, et al.. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.. Human Mutation, Wiley, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩. ⟨inserm-00436454⟩



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