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)
1
Service de génétique médicale
2 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
3 Laboratoire de diagnostic génétique
4 Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes]
5 Service de Génétique Médicale [CHU Necker]
6 Department of Medical Genetics
7 Division of Developmental Medicine
8 Service de génétique
9 Service de génétique [Rouen]
10 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
11 Génétique Médicale
12 Service de Pédiatrie [CHRU Nancy]
13 Consultation de Génétique
14 Neurologie Pédiatrique
15 Service de Neurologie [CHU Limoges]
16 EA4021 - Biomolécules Thérapies anti-tumorales
17 Department of Clinical Genetics
18 CBMSO - Centro de Biología Molecular Severo Ochoa [Madrid]
19 Department Neurology
20 Department of Pediatrics
21 Division of Pediatric Neurology
22 Department of Hematology
23 Department of Clinical Genetics
24 Department of Medical Genetics
25 Genetic Health Services Victoria
26 Department of Medical Genetics
27 Service de pédiatrie et neurologie pédiatrique
28 Unité de Génétique Médicale et Foetopathologie
29 Service de Génétique
30 Reference Centre for Oral Manifestations of Rare Diseases
31 Centre for Genome Damage and Stability
32 GC (FRE2939) - Génomes et cancer
2 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
3 Laboratoire de diagnostic génétique
4 Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes]
5 Service de Génétique Médicale [CHU Necker]
6 Department of Medical Genetics
7 Division of Developmental Medicine
8 Service de génétique
9 Service de génétique [Rouen]
10 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
11 Génétique Médicale
12 Service de Pédiatrie [CHRU Nancy]
13 Consultation de Génétique
14 Neurologie Pédiatrique
15 Service de Neurologie [CHU Limoges]
16 EA4021 - Biomolécules Thérapies anti-tumorales
17 Department of Clinical Genetics
18 CBMSO - Centro de Biología Molecular Severo Ochoa [Madrid]
19 Department Neurology
20 Department of Pediatrics
21 Division of Pediatric Neurology
22 Department of Hematology
23 Department of Clinical Genetics
24 Department of Medical Genetics
25 Genetic Health Services Victoria
26 Department of Medical Genetics
27 Service de pédiatrie et neurologie pédiatrique
28 Unité de Génétique Médicale et Foetopathologie
29 Service de Génétique
30 Reference Centre for Oral Manifestations of Rare Diseases
31 Centre for Genome Damage and Stability
32 GC (FRE2939) - Génomes et cancer
Vincent Laugel
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Laurent Pasquier
- Function : Author
- PersonId : 865034
Sylvie Odent
- Function : Author
- PersonId : 851735
Benoît Funalot
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Brigitte Chabrol
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- IdHAL : brigitte-chabrol
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/).